1 Q Ectopia Lentis 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 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 8 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 9 A 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 10 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 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. 14 Q Ectopia Lentis Ectopia Lentis ??? 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 (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) 26 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 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 (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) 31 Q Ectopia