Ectopia Lentis

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What is ectopia lentis? 2 A Ectopia Lentis

What is ectopia lentis? Displacement of the lens from its normal anatomic position 3 Q Ectopia Lentis

What is ectopia lentis? Displacement of the lens from its normal anatomic position

With regard to lens ‘displacement’—what do the following terms mean? --Sublux(at)ed: --Lux(at)ed: 4 Q/A Ectopia Lentis

What is ectopia lentis? Displacement of the lens from its normal anatomic position

With regard to lens ‘displacement’—what do the following terms mean? --Sublux(at)ed: The lens is partially displaced, but remains in the ‘general area’ --Lux(at)ed: 5 Ectopia Lentis

Subluxed lens 6 Q Ectopia Lentis

What is ectopia lentis? Displacement of the lens from its normal anatomic position What iris finding is classic for a subluxed lens? With regard to lens ‘displacementIridodonesis ’—what do the following terms mean? --Sublux(at)ed: The lens is partially displaced, but remains in the ‘general area’ --Lux(at)ed: What is iridodonesis? A ‘tremulous’ iris 7 A Ectopia Lentis

What is ectopia lentis? Displacement of the lens from its normal anatomic position

With regard to lens ‘displacement’—what do the following terms mean? --Sublux(at)ed: The lens is partially displaced, but remains in the ‘general area’ --Lux(at)ed: 11 A Ectopia Lentis

What is ectopia lentis? Displacement of the lens from its normal anatomic position

With regard to lens ‘displacement’—what do the following terms mean? --Sublux(at)ed: The lens is partially displaced, but remains in the ‘general area’ --Lux(at)ed: The lens is dislocated--completely removed from the pupillary aperture. All zonular attachments have been disrupted. 12 Ectopia Lentis

Aphakic Lens resting on the retina b-scan: lens on ONH

Luxated lens 13 Ectopia Lentis

The Peds book also uses What is theectopia term lentis? ectopic here Displacement of the lens from its normal anatomic position

Ectopia Lentis

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The BCSC series divides ectopia lentis into three categories: 15 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

The BCSC series divides ectopia lentis into three categories: 16 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

What are the four congenital causes covered in the BCSC? 17 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan

Aniridia

Ectopia lentis et pupillae

Simple ectopia lentis (congenital type)

What are the four congenital causes covered in the BCSC? 18 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan ?

Aniridia ?

Ectopia lentis et pupillae ?

Simple ectopia lentis ? (congenital type)

What are the five developmental causes covered in the BCSC? 19 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan

Aniridia Homocystinuria

Ectopia lentis et pupillae Microspherophakia

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type)

What are the five developmental causes covered in the BCSC? 20 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan ?

Aniridia Homocystinuria ?

Ectopia lentis et pupillae Microspherophakia What are the two acquired Simple ectopia lentis o Buphthalmos 2 to causes covered in the BCSC? (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 21 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia What are the two acquired Simple ectopia lentis o Buphthalmos 2 to causes covered in the BCSC? (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 22 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan? Marfan? Trauma

Aniridia? Homocystinuria? (Pseudo)exfoliation syndrome Ectopia lentis et pupillae? Microspherophakia?

Simple ectopia lentis Buphthalmos 2o to (congenital type)? congenital glaucoma? Simple ectopia lentis (late-onset type)?

Which is the most common heritable cause of ectopia lentis? 23 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type)

Which is the most common heritable cause of ectopia lentis? Marfan 24 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation By the way—whyAniridia does Marfan appear underHomocystinuria both Congenital and Developmental headings? syndrome Because although ectopia lentis in Marfan is clearly a developmental issue, it is believed to Ectopia lentis et pupillae be present at birth—ie, congenital—in theMicrospherophakia majority of cases Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 25 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systems manifest abnormalities in Marfans? Simple ectopia lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascular --The musculoskeletal Simple ectopia lentis (late-onset type) 27 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systems manifest abnormalities in Marfans? Simple ectopia lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascular --The musculoskeletal Simple ectopia lentis (late-onset type) 28 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfans? Homocystinuria What is the inheritance pattern? syndrome Fibrillin EctopiaAD, although lentis family et pupillae history is negativeMicrospherophakia in 15% of cases What three structures/systems manifest abnormalities in Marfans? Simple ectopia lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascular --The musculoskeletal Simple ectopia lentis (late-onset type) 29 Q/A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfans? Homocystinuria What is the inheritance pattern? syndrome Fibrillin EctopiaAD, although lentis family et pupillae history is negativeMicrospherophakia in 15%% of cases What three structures/systems manifest abnormalities in Marfans? Simple ectopia lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascular --The musculoskeletal Simple ectopia lentis (late-onset type) 30 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systems manifest abnormalities in Marfan’s? Simple ectopia lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascular -- Simple ectopia lentis (late-onset type) 32 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systems manifest abnormalities in Marfan’s? Simple ectopia lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascular --The musculoskeletal Simple ectopia lentis (late-onset type) 33 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What cardiovascular abnormalities are common? What three structures/systems manifest abnormalities in Marfans? Simple ectopia lentis--Dilatation of theBuphthalmos aortic root and 2 odescendingto aorta --The eye (duh) (congenital type)--Aortic aneurysmscongenital glaucoma --The cardiovascular --Mitral valve prolapse --The musculoskeletal Simple ectopia lentis Are these abnormalities(late-onset clinically type) significant? Indeed they are—they are responsible for the significantly shortened lifespan of Marfan pts 34 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

How significant is the lifespan shortening? Quite. The life-expectancy of Marfan pts is about half that of the so-called normal population. 38 Q/A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

How significant is the lifespan shortening? Quite. The life-expectancy of Marfan pts is about half% that of the so-called normal population. 39 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

How significant is the lifespan shortening? Quite. The life-expectancy of Marfan pts is about half that of the so-called normal population. 40 Ectopia Lentis

Marfan syndrome: Aortic dissection 41 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systems manifest abnormalities in Marfan’s? Simple ectopia lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascular What musculoskeletal abnormalities are common? --The musculoskeletal --? Simple ectopia lentis --? (late-onset type) --? 42 Q/A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systems manifest abnormalities in Marfan’s? Simple ectopia lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascular What musculoskeletal abnormalities are common? --The musculoskeletal --ArachnodactylySimple ectopia lentis --Hypermobile(late-onset joints type) --Sternum deformities (eg, pectustwo-us excavatum word-ums ) 43 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systems manifest abnormalities in Marfan’s? Simple ectopia lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascular What musculoskeletal abnormalities are common? --The musculoskeletal --ArachnodactylySimple ectopia lentis --Hypermobile(late-onset joints type) --Sternum deformities (eg, pectus excavatum ) 44 Ectopia Lentis

Marfan syndrome: Arachnodactyly 45 Ectopia Lentis

Marfan syndrome: Hypermobile joints 46 Ectopia Lentis

Marfan syndrome: Pectus excavatum 47 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systemsWhat proportion of manifestMarfan pts abnormalities manifest ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 48 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systemsWhat proportion of manifestMarfan pts abnormalities manifest ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 49 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systemsWhat proportion of manifestMarfan pts abnormalities manifest ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis -- -- (late-onset type) 50 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systemsWhat proportion of manifestMarfan pts abnormalities manifest ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 51 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systemsWhat proportion of manifestMarfan pts abnormalities manifest ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? OfSimple the three ectopia (ectopia lentis lentis, m’phakia, increased axial --Microspherophakia --Increased axial length length),(late-onset which istype) most likely to be present? Ectopia lentis 52 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systemsWhat proportion of manifestMarfan pts abnormalities manifest ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? OfSimple the three ectopia (ectopia lentis lentis, m’phakia, increased axial --Microspherophakia --Increased axial length length),(late-onset which istype) most likely to be present? Ectopia lentis 53 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systemsWhat proportion of manifestMarfan pts abnormalities manifest ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, whatWhat ocular percentage structural abnormalitiesof Marfan patients develop ectopia lentis? 50 - 80 --The musculoskeletalare often present? OfSimple the three ectopia (ectopia lentis lentis, m’phakia, increased axial --Microspherophakia --Increased axial length length),(late-onset which istype) most likely to be present? Ectopia lentis 54 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation What proteinAniridia is abnormal in Marfan’s? Homocystinuria syndrome Fibrillin Ectopia lentis et pupillae Microspherophakia What three structures/systemsWhat proportion of manifestMarfan pts abnormalities manifest ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, whatWhat ocular percentage structural abnormalitiesof Marfan patients develop ectopia lentis? 50 - 80 --The musculoskeletalare often present? OfSimple the three ectopia (ectopia lentis lentis, m’phakia, increased axial --Microspherophakia --Increased axial length length),(late-onset which istype) most likely to be present? Ectopia lentis 55 Ectopia Lentis

Marfan syndrome: Ectopia lentis 56 Q Ectopia Lentis Marfan pts tend to be high myopes. Give three reasons why. --Increased axial lengthaxial myopia --Microspherophakiaincreased lens curvaturelenticular myopia --EctopiaEctopia lentis LentisLens subluxationlooking through highly curved peripheral lenslens periphery myopia

A spectacle-corrected Marfan patient c/o difficulty reading—why? CongenitalThe Developmental zonules in Marfan are s t r e t c h e d,Acquired and stretched zonules do not transmit accommodative forces well. Marfan Marfan Trauma Re managing Marfans: Poor accommodation implies what? Bifocals may be needed at an early age. (Pseudo)exfoliation What proteinAniridia is abnormal in Marfans? Homocystinuria syndrome Fibrillin Why not just bust up in there and do a clear lens extraction with IOL? Ectopia lentis et pupillae MarfanMicrospherophakia patients are at very high risk for vitreous loss as well as What three structures/systemsWhat proportion of manifestMarfanretinal pts abnormalities manifestdetachment ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 57 A Ectopia Lentis Marfan pts tend to be high myopes. Give three reasons why. --Increased axial lengthaxial myopia --Microspherophakiaincreased lens curvaturelenticular myopia --EctopiaEctopia lentis LentisLens subluxationlooking through highly curved peripheral lenslens periphery myopia

Marfan pts tend to be high myopes. Give three reasons why. --Increased axial lengthaxial myopia --Microspherophakiaincreased lens curvaturelenticular myopia --EctopiaEctopia lentis LentisLens subluxationlooking through highly curved peripheral lenslens periphery myopia

A spectacle-correctedI made Marfan this term patient up; c/o difficulty reading—why? CongenitalThe Developmental zonules in Marfana better are sname t r eis t c h e d,Acquired and stretched zonules do not transmit accommodativespherical-aberration forcesmyopia well. Marfan Marfan Trauma Re managing Marfans: Poor accommodation implies what? Bifocals may be needed at an early age. (Pseudo)exfoliation What proteinAniridia is abnormal in Marfans? Homocystinuria syndrome Fibrillin Why not just bust up in there and do a clear lens extraction with IOL? Ectopia lentis et pupillae MarfanMicrospherophakia patients are at very high risk for vitreous loss as well as What three structures/systemsWhat proportion of manifestMarfanretinal pts abnormalities manifestdetachment ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 59 Q Ectopia Lentis Marfan pts tend to be high myopes. Give three reasons why. --Increased axial lengthaxial myopia --Microspherophakiaincreased lens curvaturelenticular myopia --EctopiaEctopia lentis LentisLens subluxationlooking through highly curved peripheral lenslens periphery myopia --Increased corneal curvature? Marfan patient c/o difficulty reading—why? What about the cornea in Marfan pts--does it contribute to their high myopia? The zonules in Marfan are s t r e t c h e d, and stretched zonules do CongenitalNo—in fact, Developmental the cornea in Marfan tends to be flatterAcquiredthan normal not transmit accommodative forces well. Marfan Marfan Trauma Re managing Marfans: Poor accommodation implies what? Bifocals may be needed at an early age. (Pseudo)exfoliation What proteinAniridia is abnormal in Marfans? Homocystinuria syndrome Fibrillin Why not just bust up in there and do a clear lens extraction with IOL? Ectopia lentis et pupillae MarfanMicrospherophakia patients are at very high risk for vitreous loss as well as What three structures/systemsWhat proportion of manifestMarfanretinal pts abnormalities manifestdetachment ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 60 A Ectopia Lentis Marfan pts tend to be high myopes. Give three reasons why. --Increased axial lengthaxial myopia --Microspherophakiaincreased lens curvaturelenticular myopia --EctopiaEctopia lentis LentisLens subluxationlooking through highly curved peripheral lenslens periphery myopia --Increased corneal curvature? No! Marfan patient c/o difficulty reading—why? What about the cornea in Marfan pts--does it contribute to their high myopia? The zonules in Marfan are s t r e t c h e d, and stretched zonules do CongenitalNo—in fact, Developmental the cornea in Marfan tends to be flatterAcquiredthan normal not transmit accommodative forces well. Marfan Marfan Trauma Re managing Marfans: Poor accommodation implies what? Bifocals may be needed at an early age. (Pseudo)exfoliation What proteinAniridia is abnormal in Marfans? Homocystinuria syndrome Fibrillin Why not just bust up in there and do a clear lens extraction with IOL? Ectopia lentis et pupillae MarfanMicrospherophakia patients are at very high risk for vitreous loss as well as What three structures/systemsWhat proportion of manifestMarfanretinal pts abnormalities manifestdetachment ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 61 Q Ectopia Lentis Marfan pts tend to be high myopes. Give three reasons why. --Increased axial lengthaxial myopia --Microspherophakiaincreased lens curvaturelenticular myopia --EctopiaEctopia lentis LentisLens subluxationlooking through highly curved peripheral lenslens periphery myopia --Increased corneal curvature? No! Marfan patient c/o difficulty reading—why? What about the cornea in Marfan pts--does it contribute to their high myopia? The zonules in Marfan are s t r e t c h e d, and stretched zonules do CongenitalNo—in fact, Developmental the cornea in Marfan tends to be flatterAcquiredthan normal not transmit accommodative forces well. Marfan Marfan Trauma Is the cornea flatterRe managing because Marfans:it has a sma Poorller-than-normal accommodation diamet implieser (ie,what? microcornea)? No—in fact, if anything,Bifocals may corneal be needed diameter at inan Marfan’s early age. tends to be larger than normal Homocystinuria (Pseudo)exfoliation What proteinAniridia is abnormal(ie, inmegalocornea) Marfans? syndrome Fibrillin Why not just bust up in there and do a clear lens extraction with IOL? Ectopia lentis et pupillae MarfanMicrospherophakia patients are at very high risk for vitreous loss as well as What three structures/systemsWhat proportion of manifestMarfanretinal pts abnormalities manifestdetachment ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 62 A Ectopia Lentis Marfan pts tend to be high myopes. Give three reasons why. --Increased axial lengthaxial myopia --Microspherophakiaincreased lens curvaturelenticular myopia --EctopiaEctopia lentis LentisLens subluxationlooking through highly curved peripheral lenslens periphery myopia --Increased corneal curvature? No! Marfan patient c/o difficulty reading—why? What about the cornea in Marfan pts--does it contribute to their high myopia? The zonules in Marfan are s t r e t c h e d, and stretched zonules do CongenitalNo—in fact, Developmental the cornea in Marfan tends to be flatterAcquiredthan normal not transmit accommodative forces well. Marfan Marfan Trauma Is the cornea flatterRe managing because Marfans:it has a sma Poorller-than-normal accommodation diamet implieser (ie,what? microcornea)? No—in fact, if anything,Bifocals may corneal be needed diameter at inan Marfan’s early age. tends to be larger than normal Homocystinuria (Pseudo)exfoliation What proteinAniridia is abnormal(ie, inmegalocornea) Marfans? syndrome Fibrillin Why not just bust up in there and do a clear lens extraction with IOL? Ectopia lentis et pupillae MarfanMicrospherophakia patients are at very high risk for vitreous loss as well as What three structures/systemsWhat proportion of manifestMarfanretinal pts abnormalities manifestdetachment ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 63 Q Ectopia Lentis Marfan pts tend to be high myopes. Give three reasons why. --Increased axial lengthaxial myopia --Microspherophakiaincreased lens curvaturelenticular myopia --EctopiaEctopia lentis LentisLens subluxationlooking through highly curved peripheral lenslens periphery myopia

A spectacle-corrected Marfan patient c/o difficulty reading—why? CongenitalThe Developmental zonules in Marfan are s t r e t c h e d,Acquired and stretched zonules do not transmit accommodative forces well. Marfan Marfan Trauma Re managing Marfans: Poor accommodation implies what? Bifocals may be needed at an early age. (Pseudo)exfoliation What proteinAniridia is abnormal in Marfans? Homocystinuria syndrome Fibrillin Why not just bust up in there and do a clear lens extraction with IOL? Ectopia lentis et pupillae MarfanMicrospherophakia patients are at very high risk for vitreous loss as well as What three structures/systemsWhat proportion of manifestMarfanretinal pts abnormalities manifestdetachment ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 64 A Ectopia Lentis Marfan pts tend to be high myopes. Give three reasons why. --Increased axial lengthaxial myopia --Microspherophakiaincreased lens curvaturelenticular myopia --EctopiaEctopia lentis LentisLens subluxationlooking through highly curved peripheral lenslens periphery myopia

A spectacle-corrected Marfan patient c/o difficulty reading—why? CongenitalThe Developmental zonules in Marfan are s t r e t c h e d,Acquired and stretched zonules do not transmit accommodative forces well Marfan Marfan Trauma Re managing Marfans: Poor accommodation implies what? Bifocals may be needed at an early age (Pseudo)exfoliation What proteinAniridia is abnormal in Marfans? Homocystinuria syndrome Fibrillin Why not just bust up in there and do a clear lens extraction with IOL? Ectopia lentis et pupillae MarfanMicrospherophakia patients are at very high risk for vitreous loss as well as What three structures/systemsWhat proportion of manifestMarfanretinal pts abnormalities manifestdetachment ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 65 Q Ectopia Lentis Marfan pts tend to be high myopes. Give three reasons why. --Increased axial lengthaxial myopia --Microspherophakiaincreased lens curvaturelenticular myopia --EctopiaEctopia lentis LentisLens subluxationlooking through highly curved peripheral lenslens periphery myopia

A spectacle-corrected Marfan patient c/o difficulty reading—why? CongenitalThe Developmental zonules in Marfan are s t r e t c h e d,Acquired and stretched zonules do not transmit accommodative forces well Marfan Marfan Trauma Re managing Marfan’s: Poor accommodation implies what? Bifocals may be needed at an early age (Pseudo)exfoliation What proteinAniridia is abnormal in Marfans? Homocystinuria syndrome Fibrillin Why not just bust up in there and do a clear lens extraction with IOL? Ectopia lentis et pupillae MarfanMicrospherophakia patients are at very high risk for vitreous loss as well as What three structures/systemsWhat proportion of manifestMarfanretinal pts abnormalities manifestdetachment ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 66 A Ectopia Lentis Marfan pts tend to be high myopes. Give three reasons why. --Increased axial lengthaxial myopia --Microspherophakiaincreased lens curvaturelenticular myopia --EctopiaEctopia lentis LentisLens subluxationlooking through highly curved peripheral lenslens periphery myopia

A spectacle-corrected Marfan patient c/o difficulty reading—why? CongenitalThe Developmental zonules in Marfan are s t r e t c h e d,Acquired and stretched zonules do not transmit accommodative forces well Marfan Marfan Trauma Re managing Marfan’s: Poor accommodation implies what? Bifocals may be needed at an early age (Pseudo)exfoliation What proteinAniridia is abnormal in Marfans? Homocystinuria syndrome Fibrillin Why not just bust up in there and do a clear lens extraction with IOL? Ectopia lentis et pupillae MarfanMicrospherophakia patients are at very high risk for vitreous loss as well as What three structures/systemsWhat proportion of manifestMarfanretinal pts abnormalities manifestdetachment ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 67 Q Ectopia Lentis Marfan pts tend to be high myopes. Give three reasons why. --Increased axial lengthaxial myopia --Microspherophakiaincreased lens curvaturelenticular myopia --EctopiaEctopia lentis LentisLens subluxationlooking through highly curved peripheral lenslens periphery myopia

A spectacle-corrected Marfan patient c/o difficulty reading—why? CongenitalThe Developmental zonules in Marfan are s t r e t c h e d,Acquired and stretched zonules do not transmit accommodative forces well Marfan Marfan Trauma Re managing Marfan’s: Poor accommodation implies what? Bifocals may be needed at an early age (Pseudo)exfoliation What proteinAniridia is abnormal in Marfans? Homocystinuria syndrome Fibrillin Why not just bust up in there and do a clear lens extraction with IOL? Ectopia lentis et pupillae MarfanMicrospherophakia patients are at very high risk for vitreous loss as well as What three structures/systemsWhat proportion of manifestMarfanretinal pts abnormalities manifestdetachment ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 68 A Ectopia Lentis Marfan pts tend to be high myopes. Give three reasons why. --Increased axial lengthaxial myopia --Microspherophakiaincreased lens curvaturelenticular myopia --EctopiaEctopia lentis LentisLens subluxationlooking through highly curved peripheral lenslens periphery myopia

A spectacle-corrected Marfan patient c/o difficulty reading—why? CongenitalThe Developmental zonules in Marfan are s t r e t c h e d,Acquired and stretched zonules do not transmit accommodative forces well Marfan Marfan Trauma Re managing Marfan’s: Poor accommodation implies what? Bifocals may be needed at an early age (Pseudo)exfoliation What proteinAniridia is abnormal in Marfans? Homocystinuria syndrome Fibrillin Why not just bust up in there and do a clear lens extraction with IOL? Ectopia lentis et pupillae MarfanMicrospherophakia patients are at very high risk for vitreous loss as well as What three structures/systemsWhat proportion of manifestMarfanretinal pts abnormalities manifestdetachment ocular in abnormalities? Marfans? SimpleAt least ectopia 80% lentis Buphthalmos 2o to --The eye (duh) (congenital type) congenital glaucoma --The cardiovascularOther than ectopia lentis, what ocular structural abnormalities --The musculoskeletalare often present? Simple ectopia lentis --Microspherophakia --Increased axial length (late-onset type) 69 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia? Homocystinuria? (Pseudo)exfoliation syndrome Ectopia lentis et pupillae? Microspherophakia?

Simple ectopia lentis Buphthalmos 2o to (congenital type)? congenital glaucoma? Simple ectopia lentis (late-onset type)? second Which is the most common heritable cause of ectopia lentis? ^ 70 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) second Which is the most common heritable cause of ectopia lentis? ^ Homocystinuria 71 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) --The cardiovascular --The musculoskeletal —The CNS 72 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) --The cardiovascular --The musculoskeletal —The CNS 73 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) --The cardiovascular --The musculoskeletal —The CNS 74 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) --The cardiovascular --The musculoskeletal —The CNS 75 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) ------76 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) --The cardiovascular --The musculoskeletal --The CNS 77 Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) --The cardiovascular Note that these were the three structures/systems affected in Marfan --The musculoskeletal --The CNS 78 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine What is the classic habitus in homocystinuria? Simple ectopia lentis BuphthalmosTall and thin, with 2o arachnodactylyto and sternum abnormalities Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolismHow manifests about their as coloration? excessive serum homocysteine, They tend to be fair-skinned and fair-haired which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) --The cardiovascular Note that these were the three structures/systems affected in Marfan --The musculoskeletal --The CNS 79 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine What is the classic habitus in homocystinuria? Simple ectopia lentis BuphthalmosTall and thin, with 2o arachnodactylyto and sternum abnormalities Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolismHow manifests about their as coloration? excessive serum homocysteine, They tend to be fair-skinned and fair-haired which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) --The cardiovascular Note that these were the three structures/systems affected in Marfan --The musculoskeletal --The CNS 80 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine What is the classic habitus in homocystinuria? Simple ectopia lentis BuphthalmosTall and thin, with 2o arachnodactylyto and sternum abnormalities Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolismHow manifests about their as coloration? excessive serum homocysteine, They tend to be fair-skinned and fair-haired which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) --The cardiovascular Note that these were the three structures/systems affected in Marfan --The musculoskeletal --The CNS 81 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine What is the classic habitus in homocystinuria? Simple ectopia lentis BuphthalmosTall and thin, with 2o arachnodactylyto and sternum abnormalities Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolismHow manifests about their as coloration? excessive serum homocysteine, They tend to be fair-skinned and fair-haired which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) --The cardiovascular Note that these were the three structures/systems affected in Marfan --The musculoskeletal --The CNS 82 Ectopia Lentis

Homocystinuria 83 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What proportion of homocystinuria pts manifest ocular abnormalities? What four structures/systemsAbout 80% manifest abnormalities in homocystinuria? --The eye (duh) Other than ectopia lentis, what ocular structural abnormalities are --The cardiovascularoften present? --The musculoskeletalEctopia lentis is pretty much it --The CNS 84 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What proportion of homocystinuria pts manifest ocular abnormalities? What four structures/systemsAbout 80% manifest abnormalities in homocystinuria? --The eye (duh) Other than ectopia lentis, what ocular structural abnormalities are --The cardiovascularoften present? --The musculoskeletalEctopia lentis is pretty much it --The CNS 85 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What proportion of homocystinuria pts manifest ocular abnormalities? What four structures/systemsAbout 80% manifest abnormalities in homocystinuria? --The eye (duh) Other than ectopia lentis, are other ocular structural abnormalities --The cardiovascularoften present? --The musculoskeletalEctopia lentis is pretty much it --The CNS 86 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What proportion of homocystinuria pts manifest ocular abnormalities? What four structures/systemsAbout 80% manifest abnormalities in homocystinuria? --The eye (duh) Other than ectopia lentis, are other ocular structural abnormalities --The cardiovascularoften present? --The musculoskeletalNah—ectopia lentis is pretty much it --The CNS 87 Ectopia Lentis

Homocystinuria: Ectopia lentis 88 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What proportion of homocystinuria pts manifest ocular abnormalities? What four structures/systemsAbout 80% manifest abnormalities in homocystinuria? --The eye (duh) Other than ectopia lentis, what ocular structural abnormalities are --The cardiovascularoften present? During which stage of life does subluxation typically occur? --The musculoskeletalNah—ectopia lentis is pretty much it Childhood (in most cases prior to age 10 years) --The CNS 89 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What proportion of homocystinuria pts manifest ocular abnormalities? What four structures/systemsAbout 80% manifest abnormalities in homocystinuria? --The eye (duh) Other than ectopia lentis, what ocular structural abnormalities are --The cardiovascularoften present? During which stage of life does subluxation typically occur? --The musculoskeletalNah—ectopia lentis is pretty much it Childhood (in most cases prior to age 10 years) --The CNS 90 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine SimpleWhat ectopia sight-threatening lentis complicationBuphthalmos can result 2fromo to ectopia lentis? Then why(congenitalSecondary isn’t it called type) angle-closure ‘methioninuria’? glaucomacongenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What proportion of homocystinuria pts manifest ocular abnormalities? What four structures/systemsAbout 80% manifest abnormalities in homocystinuria? --The eye (duh) Other than ectopia lentis, what ocular structural abnormalities are --The cardiovascularoften present? During which stage of life does subluxation typically occur? --The musculoskeletalNah—ectopia lentis is pretty much it Childhood (in most cases prior to age 10 years) --The CNS 91 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine SimpleWhat ectopia sight-threatening lentis complicationBuphthalmos can result 2fromo to ectopia lentis? Then why(congenitalSecondary isn’t it called type) angle-closure ‘methioninuria’? glaucomacongenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What proportion of homocystinuria pts manifest ocular abnormalities? What four structures/systemsAbout 80% manifest abnormalities in homocystinuria? --The eye (duh) Other than ectopia lentis, what ocular structural abnormalities are --The cardiovascularoften present? During which stage of life does subluxation typically occur? --The musculoskeletalNah—ectopia lentis is pretty much it Childhood (in most cases prior to age 10 years) --The CNS 92 Ectopia Lentis

End-stage glaucoma in a homocystinuria pt with ectopia lentis 93 Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine SimpleWhat ectopia sight-threatening lentis complicationBuphthalmos can result 2fromo to ectopia lentis? Then why(congenitalSecondary isn’t it called type) angle-closure ‘methioninuria’? glaucomacongenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) For more on secondaryWhat proportion angle-closure of homocystinuria glaucoma pts manifest ocular abnormalities? stemmingWhat four structures/systemsfromAbout ectopia 80% lentis, manifest see slide-set abnormalities G16 in homocystinuria? --The eye (duh) Other than ectopia lentis, what ocular structural abnormalities are --The cardiovascularoften present? During which stage of life does subluxation typically occur? --The musculoskeletalNah—ectopia lentis is pretty much it Childhood (in most cases prior to age 10 years) --The CNS 94 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What cardiovascular abnormalities are common? What four structures/systems manifest abnormalities in homocystinuria? -- --The eye (duh) -- --The cardiovascular -- --The musculoskeletal -- --The CNS -- 95 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What cardiovascular abnormalities are common? What four structures/systems manifest abnormalities in homocystinuria? --HTN --The eye (duh) --Cardiomegaly --The cardiovascular --Thromboembolism --The musculoskeletal --CAD --The CNS --CVA 96 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What cardiovascular abnormalities are common? What four structures/systems manifest abnormalities in homocystinuria? --HTN --The eye (duh) --Cardiomegaly What proportion of untreated homocystinurics will --The cardiovascular --Thromboembolism experience a significant vascular event prior to age 30? --The musculoskeletal --CAD An astonishing 50%! (And the majority will experience it prior to age 20) --The CNS --CVA 97 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What cardiovascular abnormalities are common? What four structures/systems manifest abnormalities in homocystinuria? --HTN --The eye (duh) --Cardiomegaly What proportion of untreated homocystinurics will --The cardiovascular --Thromboembolism experience a significant vascular event prior to age 30? --The musculoskeletal --CAD An astonishing 50%! (And the majority will experience it prior to age 20) --The CNS --CVA 98 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What cardiovascular abnormalities are common? What four structures/systems manifest abnormalities in homocystinuria? --HTN What relatively common medical event greatly --The eye (duh) --Cardiomegaly increases the risk of a thromboembolic event? --The cardiovascular --Thromboembolism General anesthesia. It is vital to identify --The musculoskeletal --CAD homocystinurics prior to surgery! --The CNS --CVA 99 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What cardiovascular abnormalities are common? What four structures/systems manifest abnormalities in homocystinuria? --HTN What relatively common medical event greatly --The eye (duh) --Cardiomegaly increases the risk of a thromboembolic event? --The cardiovascular --Thromboembolism General anesthesia. It is vital to identify --The musculoskeletal --CAD homocystinurics prior to surgery! --The CNS --CVA 100 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) In addition to arachnodactyly and sternum deformities, there --The cardiovascular is a musculoskeletal abnormality classic for homocystinuria. --The musculoskeletal What is it? --The CNS Osteoporosis 101 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) In addition to arachnodactyly and sternum deformities, there --The cardiovascular is a musculoskeletal abnormality classic for homocystinuria. --The musculoskeletal What is it? --The CNS Early osteoporosis 102 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis How early are we talking(late-onset about? type) What four structures/systemsCrazy early. Osteoporotic manifest abnormalities changes are common in homocystinuria? in childhood --The eye (duh) (and have beenIn addition reported to inarachnodactyly toddlers) and sternum deformities, there --The cardiovascular is a musculoskeletal abnormality classic for homocystinuria. --The musculoskeletal What is it? --The CNS Early osteoporosis 103 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis How early are we talking(late-onset about? type) What four structures/systemsCrazy early. Osteoporotic manifest abnormalities changes are common in homocystinuria? in childhood --The eye (duh) (and have beenIn addition reported to inarachnodactyly toddlers) and sternum deformities, there --The cardiovascular is a musculoskeletal abnormality classic for homocystinuria. --The musculoskeletal What is it? --The CNS Early osteoporosis 104 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) --The cardiovascularWhat CNS abnormalities are common? --The musculoskeletal--Seizures --The CNS --Mental retardation 105 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) --The cardiovascularWhat CNS abnormalities are common? --The musculoskeletal--Seizures --The CNS --Mental retardation 106 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) So, MOST homocystinurics have these nonocular problems: --M --The cardiovascular --O --The musculoskeletal --S --The CNS --T 107 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) What four structures/systems manifest abnormalities in homocystinuria? --The eye (duh) So, MOST homocystinurics have these nonocular problems: --Mental retardation --The cardiovascular --Osteoporosis --The musculoskeletal --Seizures --The CNS --Thrombosis of the systemic vasculature 108 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) Are there steps that can be taken to mitigate the effects of the faulty methionine metabolism? WhatIndeed four there structures/systems are. A diet low in methionine manifest (and abnormalities high in cystein ine), homocystinuria? along with supplemental

--Thevitamin eye B6, can(duh) significantly reduce the rate of ectopia (and systemic probs as well) --The cardiovascular --The musculoskeletal --The CNS 109 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome HomocystinuriaEctopia lentis is due et topupillae faulty metabolismMicrospherophakia for what amino acid? (hint: it’s not cysteine) Methionine Simple ectopia lentis Buphthalmos 2o to Then why(congenital isn’t it called type) ‘methioninuria’?congenital glaucoma Because faulty methionine metabolism manifests as excessive serum homocysteine, which spills into the urine—hence, homocystinuriaSimple ectopia lentis (late-onset type) Are there steps that can be taken to mitigate the effects of the faulty methionine metabolism? WhatIndeed four there structures/systems are. A diet low in methionine manifest (and abnormalities high in cystein ine), homocystinuria? along with supplemental

--Thevitamin eye B6, can(duh) significantly reduce the rate of ectopia (and systemic probs as well) --The cardiovascular --The musculoskeletal --The CNS 110 Ectopia Lentis

Marfan syndrome Homocystinuria

As is likely apparent by now, Marfan and homocystinuria share a number of features—but not all. Let’s run through them and see which are which. 111 Q Ectopia Lentis Marfan syndrome Homocystinuria

(Start here, work down the list) Associated↑ risk thromboembolism with cataracts Lens subluxes up Lens subluxes down

Divvy up the characteristics. Tall Some go both ways. Thin habitus Fair-haired Zonules stretched Zonules broken Associated with microspherophakia

Ectopia usually bilateral and symmetric Chest-wall deformities 112 Q/A Ectopia Lentis Marfan syndrome Homocystinuria

Associated with cataracts↑ risk thromboembolism Lens subluxes up Do these simultaneously Lens subluxes down Tall Thin habitus Fair-haired Zonules stretched Zonules broken Associated with microspherophakia

Ectopia usually bilateral and symmetric Chest-wall deformities 113 Q/A Ectopia Lentis Marfan syndrome Homocystinuria

Associated with cataractsAssociated with cataracts Associated↑ risk thromboembolism with cataracts Lens subluxes up Lens subluxes up Lens subluxes down Lens subluxes down Tall Thin habitus Fair-haired Zonules stretched Zonules broken Associated with microspherophakia

Ectopia usually bilateral and symmetric Chest-wall deformities 114 Q/A Ectopia Lentis Marfan syndrome Homocystinuria

Associated with cataractsAssociated with cataracts Associated↑ risk thromboembolism with cataracts Lens subluxes up Lens subluxes up Lens subluxes down Lens subluxes down Tall bothTall Tall Thin habitus Fair-haired Zonules stretched Zonules broken Associated with microspherophakia

Ectopia usually bilateral and symmetric Chest-wall deformities 115 Q/A Ectopia Lentis Marfan syndrome Homocystinuria

Associated with cataractsAssociated with cataracts Associated↑ risk thromboembolism with cataracts Lens subluxes up Lens subluxes up Lens subluxes down Lens subluxes down Tall bothTall Tall

Thin habitus Thinboth habitus Thin habitus Fair-haired Zonules stretched Zonules broken Associated with microspherophakia

Ectopia usually bilateral and symmetric Chest-wall deformities 116 Q/A Ectopia Lentis Marfan syndrome Homocystinuria

Associated with cataractsAssociated with cataracts Associated↑ risk thromboembolism with cataracts Lens subluxes up Lens subluxes up Lens subluxes down Lens subluxes down Tall bothTall Tall

Thin habitus Thinboth habitus Thin habitus Fair-haired Fair-haired Zonules stretched Do these simultaneously Zonules broken Associated with microspherophakia

Ectopia usually bilateral and symmetric Chest-wall deformities 117 Q/A Ectopia Lentis Marfan syndrome Homocystinuria

Associated with cataracts Associated↑ risk thromboembolism with cataracts

Lens subluxes up Lens subluxes down

Tall both Tall

Thin habitus both Thin habitus Thin habitus Thin habitus Fair-haired Fair-haired Zonules stretched Zonules broken

Associated with microspherophakia

Ectopia usually bilateral and symmetric Chest-wall deformities 118 Q/A Ectopia Lentis Marfan syndrome Homocystinuria

Associated with cataracts Associated↑ risk thromboembolism with cataracts

Lens subluxes up Lens subluxes down

Tall both Tall

Thin habitus both Thin habitus Thin habitus Thin habitus Fair-haired Fair-haired Zonules stretched Zonules broken

Associated with Associated with both microspherophakia microspherophakia

Ectopia usually bilateral and symmetric Chest-wall deformities 119 Q/A Ectopia Lentis Marfan syndrome Homocystinuria

Associated with cataracts Associated↑ risk thromboembolism with cataracts

Lens subluxes up Lens subluxes down

Tall both Tall

Thin habitus both Thin habitus Thin habitus Thin habitus Fair-haired Fair-haired Zonules stretched Zonules broken

Associated with Associated with both microspherophakia microspherophakia

Ectopia usually bilateral Ectopia usually bilateral and symmetric both and symmetric Chest-wall deformities 120 A Ectopia Lentis Marfan syndrome Homocystinuria

Associated with cataracts Associated↑ risk thromboembolism with cataracts

Lens subluxes up Lens subluxes down

Tall both Tall

Thin habitus both Thin habitus Thin habitus Thin habitus Fair-haired Fair-haired Zonules stretched Zonules broken

Associated with Associated with both microspherophakia microspherophakia

Ectopia usually bilateral Ectopia usually bilateral and symmetric both and symmetric

Chest-wall deformities both Chest-wall deformities 121 Ectopia Lentis

Marfan syndrome Homocystinuria

Associated with cataracts ↑ risk thromboembolism

Lens subluxes up Lens subluxes down

Tall both Tall Note the Key Differences! Thin habitusboth Thin habitus Thin habitus Thin habitus Fair-haired Fair-haired Zonules stretched Zonules broken

Associated with Associated with both microspherophakia microspherophakia

Ectopia usually bilateral Ectopia usually bilateral and symmetric both and symmetric

Chest-wall deformities both Chest-wall deformities 122 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Microspherophakia. Note the small size, extreme curvature of the lens 125 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Microspherophakia. With mydriasis, the lens is able to fit through the pupillary aperture 128 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Simple ectopia lentis o In a few words, how would you descrBuphthalmosibe the shape 2 to of a microspherophakic lens? (congenital type) The name says it all: the lens is congenitalsmall (‘micro’) glaucoma and round (‘sphero’) Simple ectopia lentis WhatPts with common microspherophakia slit-lamp observation are(late-onset almost owes always to type) the high lens’ myopes. small size? Why? Typically,Because the the entirety lens is small,of the itlens has equator a short canradius be ofseen curvature. in the pupillary Further, aperture because it whenis spherical, the pt is it widely is more dilated curved than is a normal lens. These two factors give the m’spheric lens vastly more converging power than a normal lens possesses. 129 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Simple ectopia lentis o In a few words, how would you descrBuphthalmosibe the shape 2 to of a microspherophakic lens? (congenital type) The name says it all: the lens is congenitalsmall (‘micro’) glaucoma and round (‘sphero’) Simple ectopia lentis HowWhatPts does with common thismicrospherophakia differ slit-lamp from ‘run observation of the are mill’(late-onset almost high owes myopia? always to type) the high lens’ myopes. small size? Why? MostTypically,Because cases the ofthe high entirety lens myopia is small,of arethe due itlens has to equatorexcessive a short canradius length be ofseen thecurvature. opin ticalthe axispupillary Further, (so-called aperture because ‘axial myopia’) it whenis spherical, the pt is it widely is more dilated curved than is a normal lens. These two factors give the m’spheric lens vastly more converging power than a normal lens possesses. 133 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Simple ectopia lentis o In a few words, how would you descrBuphthalmosibe the shape 2 to of a microspherophakic lens? (congenital type) The name says it all: the lens is congenitalsmall (‘micro’) glaucoma and round (‘sphero’) Simple ectopia lentis HowWhatPts does with common thismicrospherophakia differ slit-lamp from ‘run observation of the are mill’(late-onset almost high owes myopia? always to type) the high lens’ myopes. small size? Why? MostTypically,Because cases the ofthe high entirety lens myopia is small,of arethe due itlens has to equatorexcessive a short canradius length be ofseen thecurvature. opin ticalthe axispupillary Further, (so-called aperture because ‘axial myopia’) it whenis spherical, the pt is it widely is more dilated curved than is a normal lens. These two factors give the m’spheric lens vastly more converging power than a normal lens possesses. 134 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

SimpleWith ectopiawhat condition lentis is microsBuphthalmospherophakia 2o mostto frequently associated? (congenitalWeill-Marchesani type) syndromecongenital glaucoma Simple ectopia lentis (late-onsetWhat are thetype) findings in Weill-Marchesani? Patients with Weill-Marchesani have: …short stature …short fingers …stiff joints (Think of it as the opposite of Marfan syndr ome) 137 Q/A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Weill-Marchesani syndrome: Short stature 140 Q/A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Weill-Marchesani syndrome: Short fingers 143 Q/A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

SimpleWith ectopiawhat condition lentis is microsBuphthalmospherophakia 2o mostto frequently associated? (congenitalWeill-Marchesani type) syndromecongenital glaucoma Simple ectopia lentis (late-onsetWhat are thetype) findings in Weill-Marchesani? Patients with Weill-Marchesani have: …short stature (Tall stature) …short fingers (Long fingers) …stiff joints (Lax joints) (Think of it as the opposite of Marfan syndrome) 146 Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

SimpleWith ectopiawhat condition lentis is microsBuphthalmospherophakia 2o mostto frequently associated? (congenitalWeill-Marchesani type) syndromecongenital glaucoma Simple ectopia lentis (late-onsetWhat are thetype) findings in Weill-Marchesani? Patients with Weill-Marchesani have: …short stature (Tall stature) …short fingers (Long fingers) …stiff joints (Lax joints) (Think of it as the opposite of Marfan syndrome) 147 Ectopia Lentis

Weill-Marchesani syndrome Marfan syndrome 148 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

SimpleWith ectopiawhat condition lentis is microsBuphthalmospherophakia 2o mostto frequently associated? (congenitalWeill-Marchesani type) syndromecongenital glaucoma Simple ectopia lentis Weill-Marchesani is strongly associated with microspherophakia. With what conditions is microspherophakia occasionally associated?(late-onset type) Congenital rubella, Lowe syndrome, Alport syndrome, Marfan syndrome and Peters anomaly 149 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

SimpleWith ectopiawhat condition lentis is microsBuphthalmospherophakia 2o mostto frequently associated? (congenitalWeill-Marchesani type) syndromecongenital glaucoma Simple ectopia lentis Weill-Marchesani is strongly associated with microspherophakia. With what conditions is microspherophakia occasionally associated?(late-onset type) Congenital rubella, Lowe syndrome, Alport syndrome, Marfan syndrome and Peters anomaly 150 Ectopia Lentis

Ectopia Lentis Ruby LAMP is a mnemonic for the other conditions associated with microspherophakia:

Ruby = Rubella Congenital Developmental Acquired Lowe syndrome AlportMarfan syndrome Marfan Trauma Marfan syndrome PetersAniridia anomaly Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

SimpleWith ectopiawhat condition lentis is microsBuphthalmospherophakia 2o mostto frequently associated? (congenitalWeill-Marchesani type) syndromecongenital glaucoma Simple ectopia lentis Weill-Marchesani is strongly associated with microspherophakia. With what conditions is microspherophakia occasionally associated?(late-onset type) Congenital rubella, Lowe syndrome, Alport syndrome, Marfan syndrome and Peters anomaly 151 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

AniridiaIn three words (including syndromeHomocystinuria), what are Lowe and Alport syndromes?(Pseudo)exfoliation Familial oculorenal syndromes syndrome EctopiaWhat is their lentis classic et pupillae (nonocular) Microspherophakiapresenting sign? Hematuria SimpleWith ectopiawhat condition lentis is microsBuphthalmospherophakia 2o mostto frequently associated? (congenitalMicrospherophakiaWeill-Marchesani type) is not syndromethe classiccongenital lens finding glaucoma in the oculorenal syndromes (and should not be the first one out of your mouth if pimped about them). What is? Simple ectopia lentis Weill-MarchesaniLenticonus is strongly associated with microspherophakia. With what conditions is microspherophakia occasionally associated?(late-onset type) Congenital rubella, Lowe syndrome, Alport syndrome, Marfan syndrome and Peters anomaly 152 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Anterior lenticonus in Alport syndrome 158 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

SimpleWith ectopiawhat condition lentis is microsBuphthalmospherophakia 2o mostto frequently associated? (congenitalWeill-Marchesani type) syndromecongenital glaucoma Simple ectopia lentis Weill-Marchesani is strongly associated with microspherophakia. With what conditions is microspherophakia occasionally associated?(late-onset type) Congenital rubella, Lowe syndrome, Alport syndrome, Marfan syndrome and Peters anomaly

In three words (not including a form of), what is Peters anomaly? A form of anterior segment dystgenesis 159 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

SimpleWith ectopiawhat condition lentis is microsBuphthalmospherophakia 2o mostto frequently associated? (congenitalWeill-Marchesani type) syndromecongenital glaucoma Simple ectopia lentis Weill-Marchesani is strongly associated with microspherophakia. With what conditions is microspherophakia occasionally associated?(late-onset type) Congenital rubella, Lowe syndrome, Alport syndrome, Marfan syndrome and Peters anomaly

In three words (not including a form of), what is Peters anomaly? A form of anterior segment dysgenesis 160 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

SimpleWithIn ectopiawhat terms condition of lentis the fundamental is microsBuphthalmos embryologicalpherophakia 2 disordero mostto frequently involved, associated? (congenitalWeill-Marchesanianterior type) segment syndrome dysgenesiscongenital is what sort glaucoma of condition? A neurocristopathy Simple ectopia lentis Weill-Marchesani is strongly associated with microspherophakia. With what conditions is microspherophakiaWhat is aoccasionally neurocristopathyassociated?(late-onset? type) A congenital/developmental abnormality owing to flawed Congenital rubella, Lowe syndrome, Alport syndrome, Marfan syndrome and Peters anomaly neural-crest cell migration or differentiation

In three words (not including a form of), what is Peters anomaly? A form of anterior segment dysgenesis 161 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

In three words (not including a form of), what is Peters anomaly? A form of anterior segment dysgenesis 162 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

In three words (not including a form of), what is Peters anomaly? A form of anterior segment dysgenesis 163 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

In three words (not including a form of), what is Peters anomaly? A form of anterior segment dysgenesis 164 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

SimpleWith ectopiawhat condition lentis is microspherophakiao most frequently associated? How does Peters anomaly present?Buphthalmos 2 to (congenitalWeill-Marchesani type) syndrome With a defect of the posterior centralcongenital cornea, including glaucoma the absence of Descemet’s and subjacent endothelium.Simple Adhesionsectopia lentis extending fromWeill-Marchesani the iris to the isposterior strongly associatedcorneal defect with microspherophakia. are often present With. what conditions is microspherophakia occasionally associated?(late-onset type) HowCongenital does it present? rubella, Lowe syndrome, Alport syndrome, Marfan syndrome and Peters anomaly As a corneal opacity at birth (it’s in the STUMPED mnemonic). The opacity ranges in severity from a faint haze to an opaque, elevated and vascularized mess. 165 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

1. Defect of the posterior central cornea, 2. Adhesions extending from the iris including the absence of Descemet’s to the posterior corneal defect and subjacent endothelium

Peters anomaly 167 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

SimpleWith ectopiawhat condition lentis is microspherophakiao most frequently associated? How does Peters anomaly present?Buphthalmos 2 to (congenitalWeill-Marchesani type) syndrome With a defect of the posterior centralcongenital cornea, including glaucoma the absence of Descemet’s and subjacent endothelium.Simple Adhesionsectopia lentis extending fromWeill-Marchesani the iris to the isposterior strongly associatedcorneal defect with microspherophakia. are often present With. what conditions is microspherophakia occasionally associated?(late-onset type) WhatCongenital is the classic rubella, clinical Lowe scenariosyndrome, for Alport Peters? syndrome, Marfan syndrome and Peters anomaly As a corneal opacity at birth (it’s in the STUMPED mnemonic). The opacity ranges in severity from a faint haze to an opaque, elevated and vascularized mess. 168 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

Aniridia Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia

SimpleWith ectopiawhat condition lentis is microspherophakiao most frequently associated? How does Peters anomaly present?Buphthalmos 2 to (congenitalWeill-Marchesani type) syndrome With a defect of the posterior centralcongenital cornea, including glaucoma the absence of Descemet’s and subjacent endothelium.Simple Adhesionsectopia lentis extending fromWeill-Marchesani the iris to the isposterior strongly associatedcorneal defect with microspherophakia. are often present With. what conditions is microspherophakia occasionally associated?(late-onset type) WhatCongenital is the classic rubella, clinical Lowe scenariosyndrome, for Alport Peters? syndrome, Marfan syndrome and Peters anomaly A corneal opacity noted at birth (it’s in the STUMPED mnemonic). The opacity ranges in severity from a faint haze to an opaque, elevated and vascularized mess. Ectopia Lentis

Peters anomaly: Hazy cornea 170 Q Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation Aniridia What is theHomocystinuria STUMPED mnemonic for a cloudy cornea in an infant? Sclerocornea; Stromal dystrophy (CHSD) syndrome Note:Ectopia There arelentis two et pupillaeT Microspherophakia S’s U SimpleWith ectopiawhat condition lentis is microspherophakiao most frequently associated? How does Petersand twoanomalyM present?Buphthalmos 2 to (congenitalWeill-Marchesani type) P eterssyndrome anomaly With a defect of theE’s posterior centralcongenital cornea, including glaucoma the absence Endothelial dystrophy (CHED); Elevated IOP (congenital glaucoma) of Descemet’s and subjacentDermoid endothelium. of Simplethe cornea Adhesionsectopia lentis extending fromWeill-Marchesani the iris to the isposterior strongly associatedcorneal defect with microspherophakia. are often present With. what conditions is microspherophakia occasionally associated?(late-onset type) WhatCongenital is the classic rubella, clinical Lowe scenariosyndrome, for Alport Peters? syndrome, Marfan syndrome and Peters anomaly A corneal opacity noted at birth (it’s in the STUMPED mnemonic). The opacity ranges in severity from a faint haze to an opaque, elevated and vascularized mess. 171 A Ectopia Lentis

Ectopia Lentis

Congenital Developmental Acquired

Marfan Marfan Trauma

(Pseudo)exfoliation Aniridia What is theHomocystinuria STUMPED mnemonic for a cloudy cornea in an infant? Sclerocornea; Stromal dystrophy (CHSD) syndrome Note:Ectopia There arelentis two et pupillaeTrauma (eg,Microspherophakia forcep injury) S’s Ulcer SimpleWith ectopiawhat condition lentis is microspherophakiao most frequently associated? How does Petersand twoanomalyM present?ucopolysaccharidosisBuphthalmos 2 to (congenitalWeill-Marchesani type) P eterssyndrome anomaly With a defect of theE’s posterior centralcongenital cornea, including glaucoma the absence Endothelial dystrophy (CHED); Elevated IOP (congenital glaucoma) of Descemet’s and subjacentDermoid endothelium. of Simplethe cornea Adhesionsectopia lentis extending fromWeill-Marchesani the iris to the isposterior strongly associatedcorneal defect with microspherophakia. are often present With. what conditions is microspherophakia occasionally associated?(late-onset type) WhatCongenital is the classic rubella, clinical Lowe scenariosyndrome, for Alport Peters? syndrome, Marfan syndrome and Peters anomaly A corneal opacity noted at birth (it’s in the STUMPED mnemonic). The opacity ranges in severity from a faint haze to an opaque, elevated and vascularized mess. 172 Q Ectopia Lentis

Ectopia Lentis Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present

Congenital Is aniridia usuallyDevelopmental unilateral, or bilateral? Acquired It is almost always bilateral Marfan Marfan Trauma Is nystgamus commonly associated with aniridia? Aniridia Yes Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia With what developmental ‘complex’ is aniridia associated? Simple ectopiaThe lentis WAGR complexBuphthalmos 2o to (congenital type) congenital glaucoma Are all aniridia cases at risk for WAGR complex? No, only those in whichSimple the ectopia genetic lentismutation is sporadic (late-onset type) 173 A Ectopia Lentis

Ectopia Lentis Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present

Aniridia. Note the presence of an iris stub/root 175 Q Ectopia Lentis

Ectopia Lentis Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present

Congenital Is aniridia usuallyDevelopmental unilateral, or bilateral? Acquired It is almost always bilateral Marfan Marfan Trauma Is nystgamus commonlyIs this a sensory associated or a with motor aniridia? nystagmus? Sensory Aniridia Yes Homocystinuria (Pseudo)exfoliation syndrome Ectopia lentis et pupillae Microspherophakia With what developmental ‘complex’ is aniridia associated? Simple ectopiaThe lentis WAGR complexBuphthalmos 2o to (congenital type) congenital glaucoma Are all aniridia cases at risk for WAGR complex? No, only those in whichSimple the ectopia genetic lentismutation is sporadic (late-onset type) 180 A Ectopia Lentis

Ectopia Lentis Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present

Congenital Is aniridia usuallyDevelopmental unilateral, or bilateral? Acquired It is almost always bilateral Marfan Marfan Trauma Is nystgamus commonlyIs this a sensory associated or a with motor aniridia? nystagmus? Sensory Aniridia Yes Homocystinuria (Pseudo)exfoliation syndrome What anatomicEctopia abnormalities lentis et arepupillae responsibleMicrospherophakia for the poor vision in aniridia? With what developmental ‘complex’ is aniridia associated? (hint: It’s not the lack of an iris) Foveal and Simpleoptic nerve ectopia hypoplasiaThe lentis WAGR complexBuphthalmos 2o to (congenital type) congenital glaucoma Are all aniridia cases at risk for WAGR complex? No, only those in whichSimple the ectopia genetic lentismutation is sporadic (late-onset type) 182 A Ectopia Lentis

Ectopia Lentis Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present

Congenital Is aniridia usuallyDevelopmental unilateral, or bilateral? Acquired It is almost always bilateral Marfan Marfan Trauma Is nystgamus commonlyIs this a sensory associated or a with motor aniridia? nystagmus? Sensory Aniridia Yes Homocystinuria (Pseudo)exfoliation syndrome What anatomicEctopia abnormalities lentis et arepupillae responsibleMicrospherophakia for the poor vision in aniridia? With what developmental ‘complex’ is aniridia associated? (hint: It’s not the lack of an iris) Foveal and Simpleoptic nerve ectopia hypoplasiaThe lentis WAGR complexBuphthalmos 2o to (congenital type) congenital glaucoma Are all aniridia cases at risk for WAGR complex? No, only those in whichSimple the ectopia genetic lentismutation is sporadic (late-onset type) 183 Q Ectopia Lentis

Ectopia Lentis Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present

Congenital Is aniridia usuallyDevelopmental unilateral, or bilateral? Acquired It is almost always bilateral Marfan Marfan Trauma Is nystgamus commonly associated with aniridia? Aniridia Yes Homocystinuria (Pseudo)exfoliation syndrome WAGR complex consists of: Ectopia lentis et pupillae Microspherophakia With what developmental W‘complex’ is aniridia associated? Aniridia Simple ectopiaThe lentis WAGR complexBuphthalmos 2o to Genitourinary abnormalities (congenital type) congenital glaucoma Are all aniridia cases at riskR for WAGR complex? No, only those in whichSimple the ectopia genetic lentismutation is sporadic (late-onset type) 186 A Ectopia Lentis

Ectopia Lentis Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present

Congenital Is aniridia usuallyDevelopmental unilateral, or bilateral? Acquired It is almost always bilateral Marfan Marfan Trauma Is nystgamus commonly associated with aniridia? Aniridia Yes Homocystinuria (Pseudo)exfoliation syndrome WAGR complex consists of: Ectopia lentis et pupillae Microspherophakia With what developmental W‘complex’ilms tumor is aniridia associated? Aniridia Simple ectopiaThe lentis WAGR complexBuphthalmos 2o to Genitourinary abnormalities (congenital type) congenital glaucoma Are all aniridia cases at riskR etardationfor WAGR complex? No, only those in whichSimple the ectopia genetic lentismutation is sporadic (late-onset type) 187 Q Ectopia Lentis

Ectopia Lentis Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present

Congenital Is aniridia usuallyDevelopmental unilateral, or bilateral? Acquired It is almost always bilateral Marfan Marfan Trauma Is nystgamus commonly associated with aniridia? Aniridia Yes Homocystinuria (Pseudo)exfoliation syndrome WAGR complex consists of: Ectopia lentis et pupillae Microspherophakia With what developmental W‘complex’ilms tumor is aniridia associated? Aniridia Simple ectopiaThe lentis WAGR complexBuphthalmos 2o to Genitourinary abnormalities (congenital type)What is the noneponymouscongenital name glaucoma for Wilms tumor (ie, what sort of tumor is it)? AAre nephroblastoma all aniridia cases at riskR etardationfor WAGR complex? No, only those in whichSimple the ectopia genetic lentismutation is sporadic (late-onset type) 188 A Ectopia Lentis

Ectopia Lentis Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present

Congenital Is aniridia usuallyDevelopmental unilateral, or bilateral? Acquired It is almost always bilateral Marfan Marfan Trauma Is nystgamus commonly associated with aniridia? Aniridia Yes Homocystinuria (Pseudo)exfoliation syndrome WAGR complex consists of: Ectopia lentis et pupillae Microspherophakia With what developmental W‘complex’ilms tumor is aniridia associated? Aniridia Simple ectopiaThe lentis WAGR complexBuphthalmos 2o to Genitourinary abnormalities (congenital type)What is the noneponymouscongenital name glaucoma for Wilms tumor (ie, what sort of tumor is it)? AAre nephroblastoma all aniridia cases at riskR etardationfor WAGR complex? No, only those in whichSimple the ectopia genetic lentismutation is sporadic (late-onset type) Ectopia Lentis

WAGR complex: Wilm’s tumor 190 Q Ectopia Lentis

Ectopia Lentis Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present

For more info on aniridia and/or the WAGR complex, see slide-set P17 194 Ectopia Lentis

 Nystgamus is commonly associated True

 Aniridia is associated with limbal stem cell deficiency True

 Presents u nilaterally and bilaterally in roughly equal rates False; it is almost always bilateral

The Thetakeaway term point:‘aniridia’ Don’t is thinka misnomer because, in about ½ of cases, a ofWe aniridia mentioned as an thatiris condition! aniridia is Theassociated rudimentaryBCSC characterizes with nystagmus… iris root it isis presenta False; it’s a misnomer because a panophthalmicrudimentary disorder iris root is always present

 Aniridia is strongly associated with foveal and optic nerve hypoplasia True

 PatientsOne complainfinal point of (and infants suffer from) photophobia True regarding aniridia:  Familial cases are at risk for Wilms tumor False; 1/3 of sporadic cases develop Wilms tumor as part of the WAGR complex

 Aniridia is associated with glaucoma True

 Aniridia is associated with early-onset cataracts True 195 Q Ectopia Lentis

 Nystgamus is commonly associated True

 Aniridia is associated with limbal stem cell? deficiency True

 Presents unilaterally and bilaterally in roughly equal rates False; it is almost always bilateral The takeaway point: Don’t think …but The you term need ‘aniridia’ to know isthe a misnomer(Hints because, forthcoming) in about ½ of cases, a of aniridia as an iris condition! other eye findings associated The rudimentaryBCSC characterizes iris root it isis presenta False; it’s a misnomer because a with it, namely: panophthalmicrudimentary disorder iris root is always present  Aniridia is strongly associated with foveal and optic? nerve hypoplasia True

 Aniridia is associated with glaucoma? True  Aniridia is associated with early-onset cataracts? True 196 Q/A Ectopia Lentis

 Nystgamus is commonly associated True

 Aniridia is associated with limbal stemA corneal cell issue deficiency True

 Presents unilaterally and bilaterally in roughly equal rates False; it is almost always bilateral The takeaway point: Don’t think …but The you term need ‘aniridia’ to know isthe a misnomer because, in about ½ of cases, a of aniridia as an iris condition! other eye findings associated The rudimentaryBCSC characterizes iris root it isis presenta False; it’s a misnomer because a with it, namely: panophthalmicrudimentary disorder iris root is always present

 Aniridia is strongly associated with foveal andHypoplasia optic of twonerve structures hypoplasia True

 Aniridia is associated with glaucomaAngle-related True condition  Aniridia is associated with early-onsetAnteriorcataracts seg issueTrue 197 A Ectopia Lentis

 Nystgamus is commonly associated True

 Aniridia is associated with limbal stem cell deficiency True

 Presents unilaterally and bilaterally in roughly equal rates False; it is almost always bilateral The takeaway point: Don’t think …but The you term need ‘aniridia’ to know isthe a misnomer because, in about ½ of cases, a of aniridia as an iris condition! other eye findings associated The rudimentaryBCSC characterizes iris root it isis presenta False; it’s a misnomer because a with it, namely: panophthalmicrudimentary disorder iris root is always present

 Aniridia is strongly associated with foveal and optic nerve hypoplasia True

 Aniridia is associated with glaucoma True

 Aniridia is associated with early-onset cataracts True 198 Ectopia Lentis

 Nystgamus is commonly associated True

 Aniridia is associated with limbal stem cell deficiency True

 Presents unilaterally and bilaterally in roughly equal rates False; it is almost always bilateral

The Thetakeaway term point‘aniridia’: Don’t is thinka misnomer because, in about ½ of cases, a of aniridia as an iris condition! The rudimentaryBCSC characterizes iris root it isas present a False; it’s a misnomer because a panophthalmicrudimentary disorder iris root is always present

 Aniridia is strongly associated with foveal and optic nerve hypoplasia True

 Aniridia is associated with glaucoma True

 Aniridia is associated with early-onset cataracts True 199 Q Ectopia Lentis

What is simple ectopia lentis? EctopiaA genetic condition Lentis the hallmark of which is subluxation of the lens

How common is it? It is uncommon Congenital Developmental Acquired Is it unilateral, or bilateral? Marfan BilateralMarfan Trauma In what direction are the lenses displaced? Aniridia Homocystinuria (Pseudo)exfoliation Superotemporal syndrome Ectopia lentis et pupillae AssumingMicrospherophakia the age-of-onset for the congenital type is birth [ed.note: it is], when does lens displacement occur in the late-onset type? Simple ectopia lentis AfterBuphthalmos age 20 years 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 200 A Ectopia Lentis

What is simple ectopia lentis? EctopiaA genetic condition Lentis the hallmark of which is subluxation of the lens

How common is it? It is very rare Ectopia Lentis Is it unilateral, or bilateral? Bilateral

The pupils typically have two further abnormalities—what are they? Congenital --They areDevelopmental very miotic, and dilate poorly Acquired --They are slit-like in shape Marfan Marfan Trauma In what direction are the pupils and lenses displaced? Aniridia In opposite directions—pupilsHomocystinuria inferotemporal , lenses(Pseudo)exfoliation superonasal syndrome Ectopia lentis et pupillae Microspherophakia

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 210 What is ectopia lentis et pupillae? A genetic Ectopiacondition the hallmark Lentis of which is the displacement of the A pupil and (microspherophakic) lens

How common is it? It is very rare Ectopia Lentis Is it unilateral, or bilateral? Bilateral

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 211 What is ectopia lentis et pupillae? A genetic Ectopiacondition the hallmark Lentis of which is the displacement of the Q pupil and (microspherophakic) lens

How common is it? It is very rare Ectopia Lentis Is it unilateral, or bilateral? Bilateral

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 212 What is ectopia lentis et pupillae? A genetic Ectopiacondition the hallmark Lentis of which is the displacement of the A pupil and (microspherophakic) lens

How common is it? It is very rare Ectopia Lentis Is it unilateral, or bilateral? Bilateral

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 213 What is ectopia lentis et pupillae? A genetic Ectopiacondition the hallmark Lentis of which is the displacement of the Q pupil and (microspherophakic) lens

How common is it? It is very rare Ectopia Lentis Is it unilateral, or bilateral? Bilateral

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 214 What is ectopia lentis et pupillae? A genetic Ectopiacondition the hallmark Lentis of which is the displacement of the A pupil and (microspherophakic) lens

How common is it? It is very rare Ectopia Lentis Is it unilateral, or bilateral? Bilateral

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 215 What is ectopia lentis et pupillae? A genetic Ectopiacondition the hallmark Lentis of which is the displacement of the Q pupil and (microspherophakic) lens

How common is it? It is very rare Ectopia Lentis Is it unilateral, or bilateral? Bilateral

The pupils typically have two further abnormalities—what are they? Congenital -- Developmental Acquired --They are slit-like in shape Marfan Marfan Trauma In what direction are the pupils and lenses displaced? Aniridia In opposite directions—pupilsHomocystinuria inferotemporal , lenses(Pseudo)exfoliation superonasal syndrome Ectopia lentis et pupillae Microspherophakia

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 216 What is ectopia lentis et pupillae? A genetic Ectopiacondition the hallmark Lentis of which is the displacement of the A pupil and (microspherophakic) lens

How common is it? It is very rare Ectopia Lentis Is it unilateral, or bilateral? Bilateral

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 217 Ectopia Lentis

Ectopia lentis et pupillae 218 What is ectopia lentis et pupillae? A genetic Ectopiacondition the hallmark Lentis of which is the displacement of the Q pupil and (microspherophakic) lens

How common is it? It is very rare Ectopia Lentis Is it unilateral, or bilateral? Bilateral

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 219 What is ectopia lentis et pupillae? A genetic Ectopiacondition the hallmark Lentis of which is the displacement of the Q/A pupil and (microspherophakic) lens

How common is it? It is very rare Ectopia Lentis Is it unilateral, or bilateral? Bilateral

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 220 What is ectopia lentis et pupillae? A genetic Ectopiacondition the hallmark Lentis of which is the displacement of the A pupil and (microspherophakic) lens

How common is it? It is very rare Ectopia Lentis Is it unilateral, or bilateral? Bilateral

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 221 What is ectopia lentis et pupillae? A genetic Ectopiacondition the hallmark Lentis of which is the displacement of the pupil and (microspherophakic) lens

How common is it? It is very rare Ectopia Lentis Is it unilateral, or bilateral? Bilateral Next, let’s review the direction of displacement The pupils typically have two further abnormalities—what are they? Congenitalfor--They several are Developmental very causes miotic, and of dilateectopia poorly lentis Acquired --They are slit-like in shape Marfan Marfan Trauma In what direction are the pupils and lenses displaced? Aniridia In opposite directions—pupilsHomocystinuria inferotemporal , lenses(Pseudo)exfoliation superonasal syndrome Ectopia lentis et pupillae Microspherophakia

Simple ectopia lentis Buphthalmos 2o to (congenital type) congenital glaucoma Simple ectopia lentis (late-onset type) 222 Q Ectopia Lentis

Lens subluxation: Which conditions are associated with displacement in which directions?

(start here)

(two) (two) 223 A Ectopia Lentis

Lens subluxation: Which conditions are associated with displacement in which directions?

Marfan; Marfan; Simple ectopia lentis Simple ectopia lentis 224 Q Ectopia Lentis

Lens subluxation: Which conditions are associated with displacement in which directions?

Marfan; Marfan; Simple ectopia lentis (one) Simple ectopia lentis 225 A Ectopia Lentis

Lens subluxation: Which conditions are associated with displacement in which directions?

Marfan; Ectopia lentis Marfan; Simple ectopia lentis et pupillae Simple ectopia lentis 226 Q Ectopia Lentis

Lens subluxation: Which conditions are associated with displacement in which directions?

Marfan; Ectopia lentis Marfan; Simple ectopia lentis et pupillae Simple ectopia lentis

(one) 227 A Ectopia Lentis

Lens subluxation: Which conditions are associated with displacement in which directions?

Marfan; Ectopia lentis Marfan; Simple ectopia lentis et pupillae Simple ectopia lentis

Homocystinuria 228 Q Ectopia Lentis

Lens subluxation: Which conditions are associated with displacement in which directions?

Marfan; Ectopia lentis Marfan; Simple ectopia lentis et pupillae Simple ectopia lentis

(?) Homocystinuria (?) 229 A Ectopia Lentis

Lens subluxation: Which conditions are associated with displacement in which directions?

Marfan; Ectopia lentis Marfan; Simple ectopia lentis et pupillae Simple ectopia lentis

(nothing I Homocystinuria (nothing I know of) know of)