Developmental Abnormalities of the Cornea

1 Developmental Abnormalities of the Cornea

Basic distinction used by the BCSC Peds book Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency 2 Developmental Abnormalities of the Cornea

Basic distinction used by the BCSC Peds book Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency 3 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

? 4 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana

Microcornea

Megalocornea 5 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana

Microcornea

Megalocornea What is the definition of megalocornea, ie, how ‘megalo’ does it have to be? Corneal diameter > 12 mm at birth, or > 13 mm at age 2 years or older

Megalocornea?

At age >2 years At birth 7 8 9 10 11 12 13 14 15 Corneal diameter (mm) 6 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana

Microcornea

Megalocornea What is the definition of megalocornea, ie, how ‘megalo’ does it have to be? Corneal diameter > 12 mm at birth, or > 13 mm at age 2 years or older

Megalocornea

At age >2 years At birth 7 8 9 10 11 12 13 14 15 Corneal diameter (mm) 7 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana

Microcornea

Megalocornea

?? 8 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana

Microcornea

Megalocornea

Primary Secondary 9 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Megalocornea With what other ocular abnormalities is it associated? There are many; they include: --Lens abnormalities: Cataract , ectopia lentis Primary Secondary --Iris abnormalities: Miosis , translucency

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 10 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 11 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 12 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 13 Developmental Abnormalities of the Cornea

Primary megalocornea 14 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 15 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 16 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 17 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 18 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Megalocornea With what other ocular abnormalities is it associated? There are many; they include: --Lens abnormalities: Cataractword , ectopiatwo words lentis Primary Secondary --Iris abnormalities: Miosis , translucency

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 19 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 20 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 21 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 22 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition Speaking of cataracts: Is primary megalocornea associated with an increased risk of intraoperative complications during cataract surgery? IndeedDoes it it is usually present unilaterally, or bilaterally? Bilaterally—always,Cornea plana and by definition What is it about megalocornea eyes that predisposes them to complications? (Hint:Is it It’san notinheriteda corneal condition? issue) If so, in what manner is it transmitted? MicrocorneaTheseYes; eyesit is X-linkedcan have “poorrecessive zonular (so integrity,” is more with common all the intr in a-op males problems ) that entails. (BTW, the quote is from the BCSC Cornea book, which considers this Megalocornea factoidWith towhat be a other “highlight.” ocular The abnormalities point being, consider is it associated? it memorization-worthy.) There are many; they include: --Lens abnormalities: Cataract , ectopia lentis Primary Secondary --Iris abnormalities: Miosis , translucency

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 23 Developmental Abnormalities of the Cornea

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 24 Developmental Abnormalities of the Cornea

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 25 Developmental Abnormalities of the Cornea

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 26 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition Speaking of cataracts: Is primary megalocornea associated with an increased risk of intraoperative complications during cataract surgery? IndeedDoes it it is usually present unilaterally, or bilaterally? Bilaterally—always,Cornea plana and by definition What is it about megalocornea eyes that predisposes them to complications? (Hint:Is it It’san notinheriteda corneal condition? issue) If so, in what manner is it transmitted? MicrocorneaTheseYes; eyesit is X-linkedcan have “poorrecessive zonular (so integrity,” is more with common all the intr in a-op males problems ) that entails. (Note: The BCSC Cornea book has made this fact about megalocornea Megalocornea a Withchapter what “highlight.” other ocular The point abnormalities being, it is probably is it associated? worthy of memorization.) There are many; they include: --Lens abnormalities: Cataract , ectopia lentis Primary Secondary --Iris abnormalities: Miosis , translucency

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 27 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 28 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 29 Developmental Abnormalities of the Cornea

Ectopia lentis 30 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 31 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 32 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

It can be associated with systemic conditions. Which ones? There are many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 33 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Megalocornea WithWhat what is the other name ocular of the abnormalities protein that is abnormalit associated? in Marfan’s? ThereFibrillin are many; they include: --Lens abnormalities: Cataract , ectopia lentis Primary Secondary --IrisWhat abnormalities: three structures/systems Miosis , translucency manifest abnormalities in Marfan’s? --The eye (duh) It--The can becardiovascular associated with systemic conditions. Which ones? There--The aremusculoskeletal many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 34 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Megalocornea WithWhat what is the other name ocular of the abnormalities protein that is abnormalit associated? in Marfan’s? ThereFibrillin are many; they include: --Lens abnormalities: Cataract , ectopia lentis Primary Secondary --IrisWhat abnormalities: three structures/systems Miosis , translucency manifest abnormalities in Marfan’s? --The eye (duh) It-- canThe becardiovascular associated with systemic conditions. Which ones? There--The aremusculoskeletal many; they include: --Down syndrome --Marfan syndrome --Alport syndrome 36 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Does it usually present unilaterally, or bilaterally? Bilaterally—always,Cornea plana and by definition Is it an inherited condition? If so, in what manner is it transmitted? MicrocorneaYes; it is X-linked recessive (so is more common in males ) What proportion of Marfan pts manifest ocular abnormalities? Megalocornea What is the name of the protein that is abnormal in Marfan’s? With what otherAt least ocular 80% abnormalities is it associated? ThereFibrillin are many; they include: --Lens abnormalities:Is megalocornea Cataract a common , ectopia ocular lentis manifestation? Primary Secondary --IrisWhat abnormalities: three Nostructures/systems Miosis , translucency manifest abnormalities in Marfan’s? --The eye (duh) It--The can becardiovascular associatedOK then, whatwith ocularsystemic abnormalities conditions. are Whichcommon? ones? --High myopia There--The aremusculoskeletal many; they include: --Ectopia lentis --Down syndrome --Marfan syndrome --Alport syndrome 38 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

? ? ? Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Does it usually present unilaterally, or bilaterally? Bilaterally—always, and by ?definition ? Cornea plana ? Is it an inherited condition? If so, in what manner is it transmitted? MicrocorneaYes; it is X-linked recessive (so is more common in males ) What proportion of Marfan pts manifest ocular abnormalities? Megalocornea What is the name of the protein that is abnormal in Marfan’s? With what otherAt least ocular 80% abnormalities is it associated? ThereFibrillin are many; they include: --Lens abnormalities:Is megalocornea Cataract a common , ectopia ocular lentis manifestation? Primary Secondary --IrisWhat abnormalities: three Nostructures/systems Miosis , translucency manifest abnormalities in Marfan’s? --The eye (duh) It--The can becardiovascular associatedOK then, whatwith ocularsystemic abnormalities conditions. are Whichcommon? ones? --High myopia There--The aremusculoskeletal many; they include: --Ectopia lentis --Down syndrome In which direction do the lenses tend to --Marfan syndrome displace in Marfan’s? --Alport syndrome Superotemporal 44 Developmental Abnormalities of the Cornea

Marfan Marfan Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Does it usually present unilaterally, or bilaterally? Bilaterally—always,Cornea plana and by definition Is it an inherited condition? If so, in what manner is it transmitted? MicrocorneaYes; it is X-linked recessive (so is more common in males ) What proportion of Marfan pts manifest ocular abnormalities? Megalocornea What is the name of the protein that is abnormal in Marfan’s? With what otherAt least ocular 80% abnormalities is it associated? ThereFibrillin are many; they include: --Lens abnormalities:Is megalocornea Cataract a common , ectopia ocular lentis manifestation? Primary Secondary --IrisWhat abnormalities: three Nostructures/systems Miosis , translucency manifest abnormalities in Marfan’s? --The eye (duh) It--The can becardiovascular associatedOK then, whatwith ocularsystemic abnormalities conditions. are Whichcommon? ones? --High myopia There--The aremusculoskeletal many; they include: --Ectopia lentis --Down syndrome In which direction do the lenses tend to --Marfan syndrome displace in Marfan’s? --Alport syndrome Superotemporal 45 Developmental Abnormalities of the Cornea

Marfan ? Marfan Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Does it usually present unilaterally, or bilaterally? Bilaterally—always, and by ?definition ? Cornea plana ? Is it an inherited condition? If so, in what manner is it transmitted? MicrocorneaYes; it is X-linked recessive (so is more common in males ) What condition is associated with displacement superonasally? Ectopia lentis et pupillae What condition is associated Whatwith displacementproportion of Marfan inferonasally? pts manifest Homocystinuria ocular abnormalities? Megalocornea WithWhat what is the other name ocular of the abnormalities protein that is abnormalit associated? in Marfan’s? What condition is associated Atwith least displacement 80% inferotemporally? Nothing I know of ThereFibrillin are many; they include: --Lens abnormalities:Is megalocornea Cataract a common , ectopia ocular lentis manifestation? Primary Secondary --IrisWhat abnormalities: three Nostructures/systems Miosis , translucency manifest abnormalities in Marfan’s? --The eye (duh) It--The can becardiovascular associatedOK then, whatwith ocularsystemic abnormalities conditions. are Whichcommon? ones? --High myopia There--The aremusculoskeletal many; they include: --Ectopia lentis --Down syndrome In which direction do the lenses tend to --Marfan syndrome displace in Marfan’s? --Alport syndrome Superotemporal 46 Developmental Abnormalities of the Cornea

Marfan Ectopia lentis Marfan et pupillae Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Does it usually present unilaterally, or bilaterally? Bilaterally—always,Cornea plana and by definition Is it an inherited condition? If so, in what manner is it transmitted? MicrocorneaYes; it is X-linked recessive (so is more common in males ) What condition is associated with displacement superonasally? Ectopia lentis et pupillae What condition is associated Whatwith displacementproportion of Marfan inferonasally? pts manifest Homocystinuria ocular abnormalities? Megalocornea WithWhat what is the other name ocular of the abnormalities protein that is abnormalit associated? in Marfan’s? What condition is associated Atwith least displacement 80% inferotemporally? Nothing I know of ThereFibrillin are many; they include: --Lens abnormalities:Is megalocornea Cataract a common , ectopia ocular lentis manifestation? Primary Secondary --IrisWhat abnormalities: three Nostructures/systems Miosis , translucency manifest abnormalities in Marfan’s? --The eye (duh) It--The can becardiovascular associatedOK then, whatwith ocularsystemic abnormalities conditions. are Whichcommon? ones? --High myopia There--The aremusculoskeletal many; they include: --Ectopia lentis --Down syndrome In which direction do the lenses tend to --Marfan syndrome displace in Marfan’s? --Alport syndrome Superotemporal 47 Developmental Abnormalities of the Cornea

Does it usually present unilaterally, or bilaterally? Bilaterally—always, and by ?definition ? Cornea plana ? Is it an inherited condition? If so, in what manner is it transmitted? MicrocorneaYes; it is X-linked recessive (so is more common in males ) What condition is associated with displacement superonasally? Ectopia lentis et pupillae What condition is associated Whatwith displacementproportion of Marfan infero ptsnasally? manifest Homocystinuria ocular abnormalities? Megalocornea WithWhat what is the other name ocular of the abnormalities protein that is abnormalit associated? in Marfan’s? What condition is associated Atwith least displacement 80% inferotemporally? Nothing I know of ThereFibrillin are many; they include: --Lens abnormalities:Is megalocornea Cataract a common , ectopia ocular lentis manifestation? Primary Secondary --IrisWhat abnormalities: three Nostructures/systems Miosis , translucency manifest abnormalities in Marfan’s? --The eye (duh) It--The can becardiovascular associatedOK then, whatwith ocularsystemic abnormalities conditions. are Whichcommon? ones? --High myopia There--The aremusculoskeletal many; they include: --Ectopia lentis --Down syndrome In which direction do the lenses tend to --Marfan syndrome displace in Marfan’s? --Alport syndrome Superotemporal 48 Developmental Abnormalities of the Cornea

Does it usually present unilaterally, or bilaterally? Bilaterally—always,Cornea Homocystinuriaplana and by definition Is it an inherited condition? If so, in what manner is it transmitted? MicrocorneaYes; it is X-linked recessive (so is more common in males ) What condition is associated with displacement superonasally? Ectopia lentis et pupillae What condition is associated Whatwith displacementproportion of Marfan infero ptsnasally? manifest Homocystinuria ocular abnormalities? Megalocornea WithWhat what is the other name ocular of the abnormalities protein that is abnormalit associated? in Marfan’s? What condition is associated Atwith least displacement 80% inferotemporally? Nothing I know of ThereFibrillin are many; they include: --Lens abnormalities:Is megalocornea Cataract a common , ectopia ocular lentis manifestation? Primary Secondary --IrisWhat abnormalities: three Nostructures/systems Miosis , translucency manifest abnormalities in Marfan’s? --The eye (duh) It--The can becardiovascular associatedOK then, whatwith ocularsystemic abnormalities conditions. are Whichcommon? ones? --High myopia There--The aremusculoskeletal many; they include: --Ectopia lentis --Down syndrome In which direction do the lenses tend to --Marfan syndrome displace in Marfan’s? --Alport syndrome Superotemporal 49 Developmental Abnormalities of the Cornea

Does it usually present unilaterally, or bilaterally? Bilaterally—always,Homocystinuria and by definition ? Cornea plana ? Is it an inherited condition? If so, in what manner is it transmitted? MicrocorneaYes; it is X-linked recessive (so is more common in males ) What condition is associated with displacement superonasally? Ectopia lentis et pupillae What condition is associated Whatwith displacementproportion of Marfan infero ptsnasally? manifest Homocystinuria ocular abnormalities? Megalocornea WithWhat what is the other name ocular of the abnormalities protein that is abnormalit associated? in Marfan’s? What condition is associated Atwith least displacement 80% inferotemporally? Nothing I know of ThereFibrillin are many; they include: --Lens abnormalities:Is megalocornea Cataract a common , ectopia ocular lentis manifestation? Primary Secondary --IrisWhat abnormalities: three Nostructures/systems Miosis , translucency manifest abnormalities in Marfan’s? --The eye (duh) It--The can becardiovascular associatedOK then, whatwith ocularsystemic abnormalities conditions. are Whichcommon? ones? --High myopia There--The aremusculoskeletal many; they include: --Ectopia lentis --Down syndrome In which direction do the lenses tend to --Marfan syndrome displace in Marfan’s? --Alport syndrome Superotemporal 50 Developmental Abnormalities of the Cornea

Does it usually present unilaterally, or bilaterally? (nothingBilaterally—always, I Cornea Homocystinuriaplana and by definition (nothing I know of) know of) Is it an inherited condition? If so, in what manner is it transmitted? MicrocorneaYes; it is X-linked recessive (so is more common in males ) What condition is associated with displacement superonasally? Ectopia lentis et pupillae What condition is associated Whatwith displacementproportion of Marfan infero ptsnasally? manifest Homocystinuria ocular abnormalities? Megalocornea WithWhat what is the other name ocular of the abnormalities protein that is abnormalit associated? in Marfan’s? What condition is associated Atwith least displacement 80% inferotemporally? Nothing I know of ThereFibrillin are many; they include: --Lens abnormalities:Is megalocornea Cataract a common , ectopia ocular lentis manifestation? Primary Secondary --IrisWhat abnormalities: three Nostructures/systems Miosis , translucency manifest abnormalities in Marfan’s? --The eye (duh) It--The can becardiovascular associatedOK then, whatwith ocularsystemic abnormalities conditions. are Whichcommon? ones? --High myopia There--The aremusculoskeletal many; they include: --Ectopia lentis --Down syndrome In which direction do the lenses tend to --Marfan syndrome displace in Marfan’s? --Alport syndrome Superotemporal 51 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Does it usually present unilaterally, or bilaterally? Bilaterally—always,Cornea plana and by definition What sortIs of itcondition an inherited is Alport condition? syndrome? If so, in what manner is it transmitted? A familialMicrocorneatwoYes; oculorenal words it is X-linked syndrome recessive (so is more common in males ) Another familial oculorenal syndrome is often mentioned along with MegalocorneaAlport syndrome.With what What other is its oculareponymous abnormalities name? is it associated? Lowe syndromeThere are many; they include: --Lens abnormalities: Cataract , ectopia lentis Primary Secondary What is the--Iris classic abnormalities: presenting sign Miosis of the ,familial translucency oculorenal syndromes (hint: It’s nonocular)? HematuriaIt can be associated with systemic conditions. Which ones? What is theThere classic are lens many; finding they in the include: familial oculorenal syndromes? Lenticonus--Down syndrome --Marfan syndrome --Alport syndrome 52 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Does it usually present unilaterally, or bilaterally? Bilaterally—always,Cornea plana and by definition What sortIs of itcondition an inherited is Alport condition? syndrome? If so, in what manner is it transmitted? A familialMicrocorneaYes; oculorenal it is X-linked syndrome recessive (so is more common in males ) Another familial oculorenal syndrome is often mentioned along with MegalocorneaAlport syndrome.With what What other is its oculareponymous abnormalities name? is it associated? Lowe syndromeThere are many; they include: --Lens abnormalities: Cataract , ectopia lentis Primary Secondary What is the--Iris classic abnormalities: presenting sign Miosis of the ,familial translucency oculorenal syndromes (hint: It’s nonocular)? HematuriaIt can be associated with systemic conditions. Which ones? What is theThere classic are lens many; finding they in the include: familial oculorenal syndromes? Lenticonus--Down syndrome --Marfan syndrome --Alport syndrome 53 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Does it usually present unilaterally, or bilaterally? Bilaterally—always,Cornea plana and by definition What sortIs of itcondition an inherited is Alport condition? syndrome? If so, in what manner is it transmitted? A familialMicrocorneaYes; oculorenal it is X-linked syndrome recessive (so is more common in males ) Another familial oculorenal syndrome is often mentioned along with MegalocorneaAlport syndrome.With what What other is its oculareponymous abnormalities name? is it associated? Lowe syndromeThere are many; they include: --Lens abnormalities: Cataract , ectopia lentis Primary Secondary What is the--Iris classic abnormalities: presenting sign Miosis of the ,familial translucency oculorenal syndromes (hint: It’s nonocular)? HematuriaIt can be associated with systemic conditions. Which ones? What is theThere classic are lens many; finding they in the include: familial oculorenal syndromes? Lenticonus--Down syndrome --Marfan syndrome --Alport syndrome 54 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Does it usually present unilaterally, or bilaterally? Bilaterally—always,Cornea plana and by definition What sortIs of itcondition an inherited is Alport condition? syndrome? If so, in what manner is it transmitted? A familialMicrocorneaYes; oculorenal it is X-linked syndrome recessive (so is more common in males ) Another familial oculorenal syndrome is often mentioned along with MegalocorneaAlport syndrome.With what What other is its oculareponymous abnormalities name? is it associated? Lowe syndromeThere are many; they include: --Lens abnormalities: Cataract , ectopia lentis Primary Secondary What is the--Iris classic abnormalities: presenting sign Miosis of the ,familial translucency oculorenal syndromes (hint: It’s nonocular)? HematuriaIt can be associated with systemic conditions. Which ones? What is theThere classic are lens many; finding they in the include: familial oculorenal syndromes? Lenticonus--Down syndrome --Marfan syndrome --Alport syndrome 55 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Does it usually present unilaterally, or bilaterally? Bilaterally—always,Cornea plana and by definition What sortIs of itcondition an inherited is Alport condition? syndrome? If so, in what manner is it transmitted? A familialMicrocorneaYes; oculorenal it is X-linked syndrome recessive (so is more common in males ) Another familial oculorenal syndrome is often mentioned along with MegalocorneaAlport syndrome.With what What other is its oculareponymous abnormalities name? is it associated? Lowe syndromeThere are many; they include: --Lens abnormalities: Cataract , ectopia lentis Primary Secondary What is the--Iris classic abnormalities: presenting sign Miosis of the ,familial translucency oculorenal syndromes (hint: It’s nonocular)? HematuriaIt can be associated with systemic conditions. Which ones? What is theThere classic are lens many; finding they in the include: familial oculorenal syndromes? Lenticonus--Down syndrome --Marfan syndrome --Alport syndrome 56 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Does it usually present unilaterally, or bilaterally? Bilaterally—always,Cornea plana and by definition What sortIs of itcondition an inherited is Alport condition? syndrome? If so, in what manner is it transmitted? A familialMicrocorneaYes; oculorenal it is X-linked syndrome recessive (so is more common in males ) Another familial oculorenal syndrome is often mentioned along with MegalocorneaAlport syndrome.With what What other is its oculareponymous abnormalities name? is it associated? Lowe syndromeThere are many; they include: --Lens abnormalities: Cataract , ectopia lentis Primary Secondary What is the--Iris classic abnormalities: presenting sign Miosis of the ,familial translucency oculorenal syndromes (hint: It’s nonocular)? HematuriaIt can be associated with systemic conditions. Which ones? What is theThere classic are lens many; finding they in the include: familial oculorenal syndromes? Lenticonus--Down syndrome --Marfan syndrome --Alport syndrome 57 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Does it usually present unilaterally, or bilaterally? Bilaterally—always,Cornea plana and by definition What sortIs of itcondition an inherited is Alport condition? syndrome? If so, in what manner is it transmitted? A familialMicrocorneaYes; oculorenal it is X-linked syndrome recessive (so is more common in males ) Another familial oculorenal syndrome is often mentioned along with MegalocorneaAlport syndrome.With what What other is its oculareponymous abnormalities name? is it associated? Lowe syndromeThere are many; they include: --Lens abnormalities: Cataract , ectopia lentis Primary Secondary What is the--Iris classic abnormalities: presenting sign Miosis of the ,familial translucency oculorenal syndromes (hint: It’s nonocular)? HematuriaIt can be associated with systemic conditions. Which ones? What is theThere classic are lens many; finding they in the include: familial oculorenal syndromes? Lenticonus--Down syndrome --Marfan syndrome --Alport syndrome 58 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal SizeIs primaryor Shape megalocornea a congenital,Corneal or acquired Transparency condition? Congenital—always, and by definition

Does it usually present unilaterally, or bilaterally? Bilaterally—always,Cornea plana and by definition What sortIs of itcondition an inherited is Alport condition? syndrome? If so, in what manner is it transmitted? A familialMicrocorneaYes; oculorenal it is X-linked syndrome recessive (so is more common in males ) Another familial oculorenal syndrome is often mentioned along with MegalocorneaAlport syndrome.With what What other is its oculareponymous abnormalities name? is it associated? Lowe syndromeThere are many; they include: --Lens abnormalities: Cataract , ectopia lentis Primary Secondary What is the--Iris classic abnormalities: presenting sign Miosis of the ,familial translucency oculorenal syndromes (hint: It’s nonocular)? HematuriaIt can be associated with systemic conditions. Which ones? What is theThere classic are lens many; finding they in the include: familial oculorenal syndromes? Lenticonus--Down syndrome --Marfan syndrome --Alport syndrome 59 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana

Microcornea

Megalocornea Is secondary megalocornea a congenital, or acquired condition? Primary Secondary Acquired—always, and by definition

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 60 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana

Microcornea

Megalocornea Is secondary megalocornea a congenital, or acquired condition? Primary Secondary Acquired—always, and by definition

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 61 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana

Microcornea

Megalocornea Is secondary megalocornea a congenital, or acquired condition? Primary Secondary Acquired—always, and by definition

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 62 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana

Microcornea

Megalocornea Is secondary megalocornea a congenital, or acquired condition? Primary Secondary Acquired—always, and by definition

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 63 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana

Microcornea

Megalocornea Is secondary megalocornea a congenital, or acquired condition? Primary Secondary Acquired—always, and by definition

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 64 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana

Microcornea

Megalocornea Is secondary megalocornea a congenital, or acquired condition? Primary Secondary Acquired—always, and by definition

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 65

Wait a minute—I thoughtDevelopmental an enlarged globe secondary Abnormalities to elevated IOP is buphthalmosword . What’s the difference between secondary megalocornea and buphthalmossame word ? In buphthalmos, the entire globe (includingof the the Cornea cornea) is enlarged, whereas in secondary megalocornea, only the cornea is—the rest of the eye is normally sized

OK, so I see a baby with elevated IOP and big corneas. How do I know whether its buphthalmosAbnormalities vs secondary megalocornea?of Abnormalities of By measuring the globes (with ultrasound). In buphthalmos, the eye will be proportionately enlarged;Corneal ie, the Size deepor AC Shapewill be accompanied by an enlargedCorneal vitreous Transparency cavity. In contrast, in secondary megalocornea AC depth will comprise a disproportionately large portion of overall eye length.

With regard to AC depth in secondary megalocornea, what proportion of total eye length are we talking about? Cornea plana If AC depth is greater than about 20% of total eye length, it’s secondary megalocornea Microcornea Think of secondary megalocornea as representing ‘arrested buphthalmos,’ ie, it affected the anterior segment, but was prevented from affecting the rest of the globe Megalocornea Is secondary megalocornea a congenital, or acquired condition? Primary Secondary Acquired—always, and by definition

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 66

Wait a minute—I thoughtDevelopmental an enlarged globe secondary Abnormalities to elevated IOP is buphthalmos . What’s the difference between secondary megalocornea and buphthalmos ? In buphthalmos, the entire globe (includingof the the Cornea cornea) is enlarged, whereas in secondary megalocornea, only the cornea is—the rest of the eye is normally sized

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 67

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 68

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 69

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 70

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 71

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 72

With regard to AC depth in secondary megalocornea, what proportion of total eye length are we talking about? Cornea plana If AC depth is greater than about 20%% of total eye length, it’s secondary megalocornea Microcornea Think of secondary megalocornea as representing ‘arrested buphthalmos,’ ie, it affected the anterior segment, but was prevented from affecting the rest of the globe Megalocornea Is secondary megalocornea a congenital, or acquired condition? Primary Secondary Acquired—always, and by definition

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 73

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 74

With regard to AC depth in secondary megalocornea, what proportion of total eye length are we talking about? Cornea plana If AC depth is greater than about 20% of total eye length, it’s secondary megalocornea Microcornea Think of secondary megalocornea as ‘arrested buphthalmos,’ ie, the IOP affected the anterior segment, but not the rest of the globe Megalocornea Is secondary megalocornea a congenital, or acquired condition? Primary Secondary Acquired—always, and by definition

Does it usually present unilaterally, or bilaterally? It can be either

What is the cause? Elevated IOP 75 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana

Microcornea

Megalocornea What is the definition of microcornea, ie, how ‘micro’ does it have to be? Corneal Corneadiameter plana < 9 mm at birthSclerocornea, or < 10 mm at age 2 years or older

Microcornea? Megalocornea

At age >2 years At birth 7 8 9 10 11 12 13 14 15 Corneal diameter (mm) 76 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana

Microcornea

Megalocornea What is the definition of microcornea, ie, how ‘micro’ does it have to be? Corneal Corneadiameter plana < 9 mm at birthSclerocornea, or < 10 mm at age 2 years or older

Microcornea Megalocornea

At age >2 years At birth 7 8 9 10 11 12 13 14 15 Corneal diameter (mm) 77 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Does microcornea present unilaterally, or bilaterally? CorneaIt can be plana either In addition to being small, can cornea also be: Microcornea --Too thick? No—by definition, the thickness is normal --Hazy? No—by definition, the cornea is clear Megalocornea --Too flat? Yes, the cornea is usually flatter than normal

With what ocular conditions is microcornea associated? --Persistent fetal vasculature (PFV, aka PHPV) --Congenital cataracts

With what systemic conditions is microcornea associated? --Ehlers-Danlos syndrome --Myotonic dystrophy 78 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

With what ocular conditions is microcornea associated? --Persistent fetal vasculature (PFV, aka PHPV) --Congenital cataracts

With what systemic conditions is microcornea associated? --Ehlers-Danlos syndrome --Myotonic dystrophy 79 Developmental Abnormalities of the Cornea

Unilateral Bilateral

Microcornea 80 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

With what ocular conditions is microcornea associated? --Persistent fetal vasculature (PFV, aka PHPV) --Congenital cataracts

With what systemic conditions is microcornea associated? --Ehlers-Danlos syndrome --Myotonic dystrophy 81 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

With what ocular conditions is microcornea associated? --Persistent fetal vasculature (PFV, aka PHPV) --Congenital cataracts

With what systemic conditions is microcornea associated? --Ehlers-Danlos syndrome --Myotonic dystrophy 82 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

With what ocular conditions is microcornea associated? --Persistent fetal vasculature (PFV, aka PHPV) --Congenital cataracts

With what systemic conditions is microcornea associated? --Ehlers-Danlos syndrome --Myotonic dystrophy 83 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

With what ocular conditions is microcornea associated? --Persistent fetal vasculature (PFV, aka PHPV) --Congenital cataracts

With what systemic conditions is microcornea associated? --Ehlers-Danlos syndrome --Myotonic dystrophy 84 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

With what ocular conditions is microcornea associated? --Persistent fetal vasculature (PFV, aka PHPV) --Congenital cataracts

With what systemic conditions is microcornea associated? --Ehlers-Danlos syndrome --Myotonic dystrophy 85 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

With what ocular conditions is microcornea associated? --Persistent fetal vasculature (PFV, aka PHPV) --Congenital cataracts

With what systemic conditions is microcornea associated? --Ehlers-Danlos syndrome --Myotonic dystrophy 86 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Does microcornea present unilaterally, or bilaterally? CorneaIt can be plana either In addition to being small, can the cornea also be: Microcornea --Too thick? No—by definition, the thickness is normal --Hazy? No—by definition, the cornea is clear Megalocornea --Too flat? Yes, the cornea is usually flatter than normal A flat cornea implies hyperopia. Is microcornea in fact associated with hyperopia? Yes With what ocular conditions is microcornea associated? --Persistent fetal vasculature (PFV, aka PHPV) A flat cornea implies--Congenital a shallow cataractsAC. Is microcornea in fact associated with a shallow AC? Yes With what systemic conditions is microcornea associated? A shallow AC implies--Ehlers-Danlos increased risk syndrome of angle-closure glaucoma. Is microcornea in fact associated with an increased risk of angle-closure glaucoma? --Myotonic dystrophy Yes 87 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Does microcornea present unilaterally, or bilaterally? CorneaIt can be plana either In addition to being small, can the cornea also be: Microcornea --Too thick? No—by definition, the thickness is normal --Hazy? No—by definition, the cornea is clear Megalocornea --Too flat? Yes, the cornea is usually flatter than normal A flat cornea implies hyperopia. Is microcornea in fact associated with hyperopia? Yes With what ocular conditions is microcornea associated? What about open--Persistent-angle glaucoma--does fetal vasculature cornea plana(PFV, c onveyaka PHPV) an increased risk of it? Yes.A flat Of cornea the cornea-plana implies--Congenital a shallow pts who cataractsAC. manage Is microc toornea avoid indeveloping fact associat angedle-closure with a shallow glaucoma, AC? 20%Yes will go on to develop the open-angle version With what systemic conditions is microcornea associated? A shallow AC implies--Ehlers-Danlos increased risk syndrome of angle-closure glaucoma. Is microcornea in fact associated with an increased risk open-of angle-closure glaucoma? --Myotonic dystrophy Yes ^ 93 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Does microcornea present unilaterally, or bilaterally? CorneaIt can be plana either In addition to being small, can the cornea also be: Microcornea --Too thick? No—by definition, the thickness is normal --Hazy? No—by definition, the cornea is clear Megalocornea --Too flat? Yes, the cornea is usually flatter than normal A flat cornea implies hyperopia. Is microcornea in fact associated with hyperopia? Yes With what ocular conditions is microcornea associated? What about open--Persistent-angle glaucoma--does fetal vasculature cornea plana(PFV, c onveyaka PHPV) an increased risk of it? Yes.A flat Of cornea the cornea-plana implies--Congenital a shallow pts who cataractsAC. manage Is microc toornea avoid indeveloping fact associat angedle-closure with a shallow glaucoma, AC? 20%Yes% will go on to develop the open-angle version. With what systemic conditions is microcornea associated? A shallow AC implies--Ehlers-Danlos increased risk syndrome of angle-closure glaucoma. Is microcornea in fact associated with an increased risk open-of angle-closure glaucoma? --Myotonic dystrophy Yes ^ 94 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Does microcornea present unilaterally, or bilaterally? CorneaIt can be plana either In addition to being small, can the cornea also be: Microcornea --Too thick? No—by definition, the thickness is normal --Hazy? No—by definition, the cornea is clear Megalocornea --Too flat? Yes, the cornea is usually flatter than normal A flat cornea implies hyperopia. Is microcornea in fact associated with hyperopia? Yes With what ocular conditions is microcornea associated? What about open--Persistent-angle glaucoma--does fetal vasculature cornea plana(PFV, c onveyaka PHPV) an increased risk of it? Yes.A flat Of cornea the cornea-plana implies--Congenital a shallow pts who cataractsAC. manage Is microc toornea avoid indeveloping fact associat angedle-closure with a shallow glaucoma, AC? 20%Yes will go on to develop the open-angle version. With what systemic conditions is microcornea associated? A shallow AC implies--Ehlers-Danlos increased risk syndrome of angle-closure glaucoma. Is microcornea in fact associated with an increased risk open-of angle-closure glaucoma? --Myotonic dystrophy Yes ^ 95 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

With what ocular conditions is microcornea associated? -- --Congenital cataracts

With what systemic conditions is microcornea associated? --Ehlers-Danlos syndrome --Myotonic dystrophy 96 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

With what ocular conditions is microcornea associated? --Persistent fetal vasculature (PFV, aka PHPV) --Congenital cataracts

With what systemic conditions is microcornea associated? --Ehlers-Danlos syndrome --Myotonic dystrophy 97 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

With what ocular conditions is microcornea associated? --Persistent fetal vasculature (PFV, aka PHPV) --Congenital cataracts

With what systemic conditions is microcornea associated? --Ehlers-Danlos syndrome --Myotonic dystrophy 98 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

With what ocular conditions is microcornea associated? --Persistent fetal vasculature (PFV, aka PHPV) --Congenital cataracts

With what systemic conditions is microcornea associated? -- -- 99 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

With what ocular conditions is microcornea associated? --Persistent fetal vasculature (PFV, aka PHPV) --Congenital cataracts

With what systemic conditions is microcornea associated? --Ehlers-Danlos syndrome --Myotonic dystrophy 100 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Basic distinction used by the BCSC Peds book Cornea plana ? ?

Microcornea Hol up—you’re skipping cornea plana! What’s up Megalocornea with that? 101 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Basic distinction used by the BCSC Peds book Cornea plana ? ?

Microcornea Hol up—you’re skipping cornea plana! What’s up Megalocornea with that? Patience, Grasshopper—all will be made clear soon 102 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Basic distinction used by the BCSC Peds book Cornea plana ? ? (OK, now answer this) Microcornea

Megalocornea 103 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Basic distinction used by the BCSC Peds book Cornea plana Peripheral Central (OK, now answer this) Microcornea

Megalocornea 104 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central ? Microcornea ? Megalocornea ? 105 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid 106 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

No question—carry on 107 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon MegalocorneaCornea plana belongs in both groups, is why it was savedEpibulbar until dermoidnow… Dermolipomas Cornea plana has five characteristics, one of which is flat Ks. What are the other four? --Flat Ks -- (The reason there are only three more slots will become apparent on the next slide) -- -- 108 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon MegalocorneaCornea plana belongs in both groups, is why it was savedEpibulbar until dermoidnow… Dermolipomas Cornea plana has five characteristics, one of which is flat Ks. What are the other four? --Flat Ks --Poorly developed (“indistinct”) limbus --Shallow AC

--High hyperopiarefractive status with associated accommodativetwo words esotropia #4 #5 109 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon MegalocorneaCornea plana belongs in both groups, is why it was savedEpibulbar until dermoidnow… Dermolipomas Cornea plana has five characteristics, one of which is flat Ks. What are the other four? --Flat Ks --Poorly developed (“indistinct”) limbus --Shallow AC --High hyperopia with associated accommodative esotropia 110 Developmental Abnormalities of the Cornea

Yikes—that is pretty flat, innit?

Cornea plana 111 Developmental Abnormalities of the Cornea

Yikes—that is pretty flat, innit? Note the ‘indistinct’ limbus

Cornea plana 112 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 113 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 114 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 115 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 116 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 117 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 118 Developmental Abnormalities of the Cornea

Cornea plana: Keratometry (I know, it’s really blurry) 119 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 120 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 121 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 122 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon What is the average central corneal power of the normal adult cornea? MegalocorneaCornea plana belongsAbout 43D in both groups, is why it was savedEpibulbar until dermoidnow… How flat does the central cornea have to beDermolipomas to qualify as cornea plana? Cornea plana Technically,has fiveBut characteristics, if less the corneathan 43D, is the butone same don’t of wh curvaturegetich it twisted--most is flat as theKs. adjacent What corn easare sclera, withinthe other four? --Flat Ks shoutinghow distance is that ofnot 43D simply are scleronot ‘plana.’cornea? Plana How cornea do you are differentiate much flatter. --Poorly developed (“indistinct”)between these limbus conditions? --Shallow AC OK, whatThe is difference the typica lis power one of of corneal a plana transparencycornea? : --High hyperopiaValues with Inin sclerocornea, theassociated 30-35D range theaccommodative corneaare common is opaque esotropia In cornea plana, the cornea is clear There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 123 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon What is the average central corneal power of the normal adult cornea? MegalocorneaCornea plana belongsAbout 43D in both groups, is why it was savedEpibulbar until dermoidnow… How flat does the central cornea have to beDermolipomas to qualify as cornea plana? Cornea plana Technically,has fiveBut characteristics, if less the corneathan 43D, is the butone same don’t of wh curvaturegetich it twisted--most is flat as theKs. adjacent What corn easare sclera, withinthe other four? --Flat Ks shoutinghow distance is that ofnot 43D simply are scleronot ‘plana.’cornea? Plana How cornea do you are differentiate much flatter. --Poorly developed (“indistinct”)between these limbus conditions? --Shallow AC OK, whatThe is key the differencetypical power is one of aof plana corneal cornea? transparency --High hyperopiaValues with Inin sclerocornea, theassociated 30-35D range theaccommodative corneaare common is opaque esotropia In cornea plana, the cornea is clear (relatively speaking) There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 124 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon What is the average central corneal power of the normal adult cornea? MegalocorneaCornea plana belongsAbout 43D in both groups, is why it was savedEpibulbar until dermoidnow… How flat does the central cornea have to beDermolipomas to qualify as cornea plana? Cornea plana Technically,has fiveBut characteristics, if less the corneathan 43D, is the butone same don’t of wh curvaturegetich it twisted--most is flat as theKs. adjacent What corn easare sclera, withinthe other four? --Flat Ks shoutinghow distance is that ofnot 43D simply are scleronot ‘plana.’cornea? Plana How cornea do you are differentiate much flatter. --Poorly developed (“indistinct”)between these limbus conditions? --Shallow AC OK, whatThe is key the differencetypical power is one of aof plana corneal cornea? transparency --High hyperopiaValues with Inin sclerocornea, theassociated 30-35D range theaccommodative corneaare common is opaque esotropia In cornea plana, the cornea is clear (relatively speaking) There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 125 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon What is the average central corneal power of the normal adult cornea? MegalocorneaCornea plana belongsAbout 43D in both groups, is why it was savedEpibulbar until dermoidnow… How flat does the central cornea have to beDermolipomas to qualify as cornea plana? Cornea plana Technically,has fiveBut characteristics, if less the corneathan 43D, is the butone same don’t of wh curvaturegetich it twisted--most is flat as theKs. adjacent What corn easare sclera, withinthe other four? --Flat Ks shoutinghow distance is that ofnot 43D simply are scleronot ‘plana.’cornea? Plana How cornea do you are differentiate much flatter. --Poorly developed (“indistinct”)between these limbus conditions? --Shallow AC OK, whatThe is key the differencetypical power is one of aof plana corneal cornea? transparency : --High hyperopiaValues with Inin sclerocornea, theassociated 30-35D range theaccommodative corneaare common is opaque aesotropia word In cornea plana, the cornea is clear (relativelyits antonym speaking) There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 126 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon What is the average central corneal power of the normal adult cornea? MegalocorneaCornea plana belongsAbout 43D in both groups, is why it was savedEpibulbar until dermoidnow… How flat does the central cornea have to beDermolipomas to qualify as cornea plana? Cornea plana Technically,has fiveBut characteristics, if less the corneathan 43D, is the butone same don’t of wh curvaturegetich it twisted--most is flat as theKs. adjacent What corn easare sclera, withinthe other four? --Flat Ks shoutinghow distance is that ofnot 43D simply are scleronot ‘plana.’cornea? Plana How cornea do you are differentiate much flatter. --Poorly developed (“indistinct”)between these limbus conditions? --Shallow AC OK, whatThe is key the differencetypical power is one of aof plana corneal cornea? transparency : --High hyperopiaValues with Inin sclerocornea, theassociated 30-35D range theaccommodative corneaare common is opaque esotropia In cornea plana, the cornea is clear (relatively speaking) There a pathognomonic corneal curvature--what is it? (Hint: It’s not a specific numeric value.) If the cornea is the same curvature as the adjacent sclera , the eye is plana 127 Developmental Abnormalities of the Cornea

Sclerocornea 128 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes

In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger anomaly Cornea2) When plana it is associatedPeripheral with aniridia Central 3) When it is associated with Alagille syndrome Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid 129 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes

Posterior embryotoxon 131 Developmental Abnormalities

What is Schwalbe’s line/ring?of the Cornea The edge or terminationWhat of Descemet’s is a posterior layer embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

AbnormalitiesIs it normally apparent of duringIs it always slit-lamp a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes

What is Schwalbe’s line/ring?of the Cornea The edge or terminationWhat of Descemet’s is a posterior layer embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is it normally apparent during slit-lamp examination? AbnormalitiesNo--it is usually too thinof Is and it alwaysposterior a to harbinger be seen of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes

Normal angle anatomy: Identify the structures Developmental Abnormalities of the Cornea

Schwalbe’s

Normal angle anatomy: Identify the structures 135 Developmental Abnormalities

What is Schwalbe’s line/ring?of the Cornea The edge or terminationWhat of Descemet’s is a posterior layer embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is it normally apparent during slit-lamp examination? AbnormalitiesNo--it is usually too thinof Is and it alwaysposterior a to harbinger be seen\ of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes

In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger anomaly Cornea2) When plana it is associatedPeripheral with aniridia Central 3) When it is associated with Alagille syndrome Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid 137 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes

In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger anomaly Cornea2) When plana it is associatedPeripheral with aniridia Central 3) When it is associated with Alagille syndrome Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid 138 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal% of otherwise Transparency normal eyes

In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger anomaly Cornea2) When plana it is associatedPeripheral with aniridia Central 3) When it is associated with Alagille syndrome Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid 139 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes

In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger anomaly Cornea2) When plana it is associatedPeripheral with aniridia Central 3) When it is associated with Alagille syndrome Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid 140 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes

In what three situations is it a significant finding? 1) Hints forthcoming… Cornea2) plana Peripheral Central 3) Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid 141 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes

In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Riegereponym-eponym syndrome Interestingly, all three of these 2) When it is associated with aniridianot an eponym begin with the letter ‘A’Cornea plana Peripheral Central 3) When it is associated with Alagilleeponym syndrome Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid 142 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes

In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome Interestingly, all three of these 2) When it is associated with aniridia begin with the letter ‘A’Cornea plana Peripheral Central 3) When it is associated with Alagille syndrome Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid 143 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes What features define Axenfeld-Rieger syndrome? In what three situations is it a significant finding? Posterior embryotoxon with attached iris strands + iris hypoplasia + angle abnormalities1) When it is part of the Axenfeld-Rieger syndrome Cornea2) When plana it is associatedPeripheral with aniridia Central What other iris abnormalities may3) be When present? it is associated with Alagille syndrome 1) Corectopia Cornea plana Microcornea 2) Ectropion uveae Posterior embryotoxon 3) Cryptless, glassy surface Megalocornea Epibulbar dermoid What corneal abnormalities may be present? 1) Megalocornea 2) Microcornea

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems 144 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems Developmental Abnormalities of the Cornea

Axenfeld-Reiger: Note the posterior embryotoxon (1) with attached iris strands (2) 146 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes What features define Axenfeld-Rieger syndrome? In what three situations is it a significant finding? Posterior embryotoxon with attached iris strands + iris hypoplasia + angle abnormalities1) When it is part of the Axenfeld-Rieger syndrome Cornea2) When plana it is associatedPeripheral with aniridia Central What other iris abnormalities may3) be When present? it is associated with Alagille syndrome 1) Corectopia‘Angle abnormalities’ suggests an increased risk of Cornea plana glaucoma. DoesMicrocornea ARS in fact convey such a risk? 2) EctropionIt does indeed uveae Posterior embryotoxon 3) Cryptless, glassy surface Megalocornea Epibulbar dermoid What corneal abnormalities may be present? 1) Megalocornea 2) Microcornea

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems 147 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes What features define Axenfeld-Rieger syndrome? In what three situations is it a significant finding? Posterior embryotoxon with attached iris strands + iris hypoplasia + angle abnormalities1) When it is part of the Axenfeld-Rieger syndrome Cornea2) When plana it is associatedPeripheral with aniridia Central What other iris abnormalities may3) be When present? it is associated with Alagille syndrome 1) Corectopia‘Angle abnormalities’ suggests an increased risk of Cornea plana glaucoma. DoesMicrocornea ARS in fact convey such a risk? 2) EctropionIt does indeed uveae Posterior embryotoxon 3) Cryptless, glassy surface Megalocornea Epibulbar dermoid What corneal abnormalities may be present? 1) Megalocornea 2) Microcornea

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems 148 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems 149 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems 150 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of What is corectopia? No; it is found in about 15% of otherwise normal eyes The displacementCorneal of the Size pupil forrom Shape its normal central-ish location Corneal Transparency What features define Axenfeld-Rieger syndrome? In what three situations is it a significant finding? WhyPosterior central- embryotoxonish? with attached iris strands + Deviationiris hypoplasia from centrality + angle of 1/2 abnormalities mm is common,1) When and it isup partto 1 mmof the Axenfeld-Rieger syndrome is considered normal Cornea2) When plana it is associatedPeripheral with aniridia Central What other iris abnormalities may3) be When present? it is associated with Alagille syndrome 1) Corectopia Cornea plana Microcornea 2) Ectropion uveae Posterior embryotoxon 3) Cryptless, glassy surface Megalocornea Epibulbar dermoid What corneal abnormalities may be present? 1) Megalocornea 2) Microcornea

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems 151 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems Developmental Abnormalities of the Cornea

Corectopia 153 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems 154 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems 155 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes What features define Axenfeld-Rieger syndrome? In what three situations is it a significant finding? Posterior embryotoxon with attached iris strands + iris hypoplasia + angle abnormalities1) When it is part of the Axenfeld-Rieger syndrome Cornea2) When plana it is associatedPeripheral with aniridia Central What other iris abnormalities may3) be When present? it is associated with Alagille syndrome 1) Corectopia Cornea plana Microcornea 2) Ectropion uveae Posterior embryotoxon 3) Cryptless, glassy surface Megalocornea Epibulbar dermoid WhatWhat does corneal the term abnormalities ectropion uveae may referbe present? to? Dermolipomas The1) Megalocornea presence of posterior pigmented iris epithelium on the anterior surface of the iris 2) Microcornea

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems 156 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Corneal Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes What features define Axenfeld-Rieger syndrome? In what three situations is it a significant finding? Posterior embryotoxon with attached iris strands + iris hypoplasia + angle abnormalities1) When it is part of the Axenfeld-Rieger syndrome Cornea2) When plana it is associatedPeripheral with aniridia Central What other iris abnormalities may3) be When present? it is associated with Alagille syndrome 1) Corectopia Cornea plana Microcornea 2) Ectropion uveae Posterior embryotoxon 3) Cryptless, glassy surface Megalocornea Epibulbar dermoid WhatWhat does corneal the term abnormalities ectropion uveae may referbe present? to? Dermolipomas The1) Megalocornea presence of posterior pigmented iris epithelium on the anterior surface of the iris 2) Microcornea

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems Developmental Abnormalities of the Cornea

Ectropion uveae 158 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems 159 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems Developmental Abnormalities of the Cornea

3 y.o. girl who presented at three months of age with hazy megalocornea, posterior embryotoxon, iris hypoplasia, corectopia, and early-onset severe glaucoma. The horizontal/vertical corneal diameters were 13.0/12.5 mm. Developmental Abnormalities of the Cornea

Axenfeld-Reiger with microcornea (8.5 mm) 162 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What nonocular abnormalities may be present? 1) 2) 3) 4) 163 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What nonocular abnormalities may be present? 1) Abnormal dentition 2) Characteristic facies 3) Periumbilical skin folds 4) Cardiac valve problems Developmental Abnormalities of the Cornea

(A) Facial photograph showing maxillary hypoplasia, thin upper lip, and broad nasal bridge (B) Left eye with corectopia (C) Right eye with posterior embryotoxon (D) Dental anomalies, including maxillary hypodontia (E) Redundant periumbilical skin

Axenfeld-Reiger syndrome Developmental Abnormalities of the Cornea

(A) Facial photograph showing maxillary hypoplasia, thin upper lip, and broad nasal bridge (B) Left eye with corectopia For more on A-R, see(C) Rightslide-set eye with posterior FELT7 embryotoxon (D) Dental anomalies, including maxillary hypodontia (E) Redundant periumbilical skin

Axenfeld-Reiger syndrome 166 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Why is the term ‘aniridia’ technically a misnomer? Abnormalities of Is it always a harbinger of significantAbnormalities pathology? of Because aCorneal rudimentary Size iris rootor isShape alwaysNo; present it is found in about 15%Corneal of otherwise Transparency normal eyes

Are all aniridia cases at risk for WAGR complex? No, only those in which the genetic mutation is sporadic 167 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Are all aniridia cases at risk for WAGR complex? No, only those in which the genetic mutation is sporadic Developmental Abnormalities of the Cornea

Aniridia. Note the presence of an iris stub/root 169 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Are all aniridia cases at risk for WAGR complex? No, only those in which the genetic mutation is sporadic 170 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Are all aniridia cases at risk for WAGR complex? No, only those in which the genetic mutation is sporadic 171 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Are all aniridia cases at risk for WAGR complex? No, only those in which the genetic mutation is sporadic 172 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Are all aniridia cases at risk for WAGR complex? No, only those in which the genetic mutation is sporadic 173 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Are all aniridia cases at risk for WAGR complex? No, only those in which the genetic mutation is sporadic 174 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Are all aniridia cases at risk for WAGR complex? No, only those in which the genetic mutation is sporadic 175 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Is aniridia usually unilateral, or bilateral?In what three situations is it a significant finding? It is almost always bilateral 1) When it is part of the Axenfeld-Rieger syndrome Cornea2) When plana it is associatedPeripheral with aniridia Central Is nystgamus commonly associated with3) aniridia?When it is associated with Alagille syndrome Yes Cornea plana Microcornea WAGR complex consists of: Posterior embryotoxon With what developmental ‘complex’W is aniridia associated? Epibulbar dermoid MegalocorneaThe WAGR complex Aniridia G Are all aniridia cases at riskR for WAGR complex? No, only those in which the genetic mutation is sporadic 176 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Is aniridia usually unilateral, or bilateral?In what three situations is it a significant finding? It is almost always bilateral 1) When it is part of the Axenfeld-Rieger syndrome Cornea2) When plana it is associatedPeripheral with aniridia Central Is nystgamus commonly associated with3) aniridia?When it is associated with Alagille syndrome Yes Cornea plana Microcornea WAGR complex consists of: Posterior embryotoxon With what developmental ‘complex’Wilms tumor is aniridia associated? Epibulbar dermoid MegalocorneaThe WAGR complex Aniridia Genitourinary abnormalities Are all aniridia cases at riskR foretardation WAGR complex? No, only those in which the genetic mutation is sporadic Developmental Abnormalities of the Cornea

WAGR complex: Wilm’s tumor 178 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Are all aniridia cases at risk for WAGR complex? No, only those in which the genetic mutation is sporadic 179 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Are all aniridia cases at risk for WAGR complex? sporadic vs No, only those in which the genetic mutation is sporadicfamilial 180 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Are all aniridia cases at risk for WAGR complex? No, only those in which the genetic mutation is sporadic 181 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

Are all aniridia cases at risk for WAGR complex? No, only those in which the genetic mutation is sporadic 182 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

In addition to liver, eye and face findings, what other organs are commonly affected? How are they affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

(Renal, neurologic and vascular abnormalities are also common) 183 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

(Renal, neurologic and vascular abnormalities are also common) 184 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

(Renal, neurologic and vascular abnormalities are also common) 185 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

(Renal, neurologic and vascular abnormalities are also common) 186 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

(Renal, neurologic and vascular abnormalities are also common) 187 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

(Renal, neurologic and vascular abnormalities are also common) 188 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What is the noneponymousAbnormalities name of ofAlagilleIs it syndrome?always a harbinger of significantAbnormalities pathology? of ArterohepaticCorneal dysplasia Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes How is it inherited? Autosomal dominant, but the expressivityIn varies what widely three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome What is the classic presentation? Cornea2) When plana it is associatedPeripheral with aniridia Central An infant with jaundice who presents to the3) Wheneye service it is associatedas a ‘rule with Alagille syndrome out Alagille syndrome’ consult Cornea plana Microcornea AlagilleTo ptsbe haveclear—what a characteristic is being afacialsked appearance--in of the eye service, a word, Posterior embryotoxon ie, what are you supposed to check for in a ‘rule out what is it? Epibulbar dermoid ‘Triangular.’MegalocorneaAlagille’ They consult? have a broad forehead, and their face tapers to a pointyYou chin. are being asked to determine whether the infant has a posterior embryotoxon In addition to liver, eye and face findings, what other organs are commonly affected? How are they affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

(Renal, neurologic and vascular abnormalities are also common) 189 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

(Renal, neurologic and vascular abnormalities are also common) 190 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

(Renal, neurologic and vascular abnormalities are also common) 191 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

(Renal, neurologic and vascular abnormalities are also common) Developmental Abnormalities of the Cornea

Alagille syndrome: Facies 193 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

(Renal, neurologic and vascular abnormalities are also common) 194 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

(Renal, neurologic and vascular abnormalities are also common) 195 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

(Renal, neurologic and vascular abnormalities are also common) 196 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

(Renal, neurologic and vascular abnormalities are also common) Developmental Abnormalities of the Cornea

Alagille syndrome: Butterfly vertebrae 198 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What is the noneponymousAbnormalities name of ofAlagilleIs it syndrome?always a harbinger of significantAbnormalities pathology? of ArterohepaticCorneal dysplasia Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes How is it inherited? Autosomal dominant, but the expressivityIn varies what widely three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome What is the classic presentation?Another syndromeCornea of2) ophthalmic When plana it isconcern associated includesPeripheral with butterfly aniridia Central An infant with jaundice who presents to the3) Wheneye service it is associatedas a ‘rule with Alagille syndrome out Alagille syndrome’vertebrae consult as a finding. What is it? Goldenhar syndrome Cornea plana Microcornea Alagille pts have a characteristic facial appearance--in a word, Posterior embryotoxon In two words, what sort of condition is Goldenhar? what is it? Epibulbar dermoid ‘Triangular.’Megalocornea They haveA craniofacial a broad forehead, malformation and their face tapers to a pointy chin. What is the noneponymous name for Goldenhar syndrome? In addition to liver, eyeOculo-auricular- and face findings,vertebral what (OAV) other organssyndrome are commonly affected? How are they affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

(Renal, neurologic and vascular abnormalities are also common) 199 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What is the noneponymousAbnormalities name of ofAlagilleIs it syndrome?always a harbinger of significantAbnormalities pathology? of ArterohepaticCorneal dysplasia Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes How is it inherited? Autosomal dominant, but the expressivityIn varies what widely three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome What is the classic presentation?Another syndromeCornea of2) ophthalmic When plana it isconcern associated includesPeripheral with butterfly aniridia Central An infant with jaundice who presents to the3) Wheneye service it is associatedas a ‘rule with Alagille syndrome out Alagille syndrome’vertebrae consult as a finding. What is it? Goldenhar syndrome Cornea plana Microcornea Alagille pts have a characteristic facial appearance--in a word, Posterior embryotoxon In two words, what sort of condition is Goldenhar? what is it? Epibulbar dermoid ‘Triangular.’Megalocornea They haveA craniofacial a broad forehead, malformation and their face tapers to a pointy chin. What is the noneponymous name for Goldenhar syndrome? In addition to liver, eyeOculo-auricular- and face findings,vertebral what (OAV) other organssyndrome are commonly affected? How are they affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

(Renal, neurologic and vascular abnormalities are also common) 200 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What is the noneponymousAbnormalities name of ofAlagilleIs it syndrome?always a harbinger of significantAbnormalities pathology? of ArterohepaticCorneal dysplasia Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes How is it inherited? Autosomal dominant, but the expressivityIn varies what widely three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome What is the classic presentation?Another syndromeCornea of2) ophthalmic When plana it isconcern associated includesPeripheral with butterfly aniridia Central An infant with jaundice who presents to the3) Wheneye service it is associatedas a ‘rule with Alagille syndrome out Alagille syndrome’vertebrae consult as a finding. What is it? Goldenhar syndrome Cornea plana Microcornea Alagille pts have a characteristic facial appearance--in a word, Posterior embryotoxon In two words, what sort of condition is Goldenhar? what is it? Epibulbar dermoid ‘Triangular.’Megalocornea They haveA craniofacial a broad forehead,two wordsmalformation and their face tapers to a pointy chin. What is the noneponymous name for Goldenhar syndrome? In addition to liver, eyeOculo-auricular- and face findings,vertebral what (OAV) other organssyndrome are commonly affected? How are they affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

(Renal, neurologic and vascular abnormalities are also common) 201 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What is the noneponymousAbnormalities name of ofAlagilleIs it syndrome?always a harbinger of significantAbnormalities pathology? of ArterohepaticCorneal dysplasia Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes How is it inherited? Autosomal dominant, but the expressivityIn varies what widely three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome What is the classic presentation?Another syndromeCornea of2) ophthalmic When plana it isconcern associated includesPeripheral with butterfly aniridia Central An infant with jaundice who presents to the3) Wheneye service it is associatedas a ‘rule with Alagille syndrome out Alagille syndrome’vertebrae consult as a finding. What is it? Goldenhar syndrome Cornea plana Microcornea Alagille pts have a characteristic facial appearance--in a word, Posterior embryotoxon In two words, what sort of condition is Goldenhar? what is it? Epibulbar dermoid ‘Triangular.’Megalocornea They haveA craniofacial a broad forehead, malformation and their face tapers to a pointy chin. What is the noneponymous name for Goldenhar syndrome? In addition to liver, eyeOculo-auricular- and face findings,vertebral what (OAV) other organssyndrome are commonly affected? How are they affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

(Renal, neurologic and vascular abnormalities are also common) 202 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What is the noneponymousAbnormalities name of ofAlagilleIs it syndrome?always a harbinger of significantAbnormalities pathology? of ArterohepaticCorneal dysplasia Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes How is it inherited? Autosomal dominant, but the expressivityIn varies what widely three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome What is the classic presentation?Another syndromeCornea of2) ophthalmic When plana it isconcern associated includesPeripheral with butterfly aniridia Central An infant with jaundice who presents to the3) Wheneye service it is associatedas a ‘rule with Alagille syndrome out Alagille syndrome’vertebrae consult as a finding. What is it? Goldenhar syndrome Cornea plana Microcornea Alagille pts have a characteristic facial appearance--in a word, Posterior embryotoxon In two words, what sort of condition is Goldenhar? what is it? Epibulbar dermoid ‘Triangular.’Megalocornea They haveA craniofacial a broad forehead, malformation and their face tapers to a pointy chin. What is the noneponymous name for Goldenhar syndrome? In addition to liver, eyeOculo-auricular- and face findings,vertebral what (OAV) other organssyndrome are commonly affected? How are they affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

(Renal, neurologic and vascular abnormalities are also common) 203 Developmental Abnormalities of the Cornea What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring

What is the noneponymousAbnormalities name of ofAlagilleIs it syndrome?always a harbinger of significantAbnormalities pathology? of ArterohepaticCorneal dysplasia Size or ShapeNo; it is found in about 15%Corneal of otherwise Transparency normal eyes How is it inherited? Autosomal dominant, but the expressivityIn varies what widely three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome What is the classic presentation?Another syndromeCornea of2) ophthalmic When plana it isconcern associated includesPeripheral with butterfly aniridia Central An infant with jaundice who presents to the3) Wheneye service it is associatedas a ‘rule with Alagille syndrome out Alagille syndrome’vertebrae consult as a finding. What is it? Goldenhar syndrome Cornea plana Microcornea Alagille pts have a characteristic facial appearance--in a word, Posterior embryotoxon In two words, what sort of condition is Goldenhar? what is it? Epibulbar dermoid ‘Triangular.’Megalocornea They haveA craniofacial a broad forehead, malformation and their face tapers to a pointy chin. What is the noneponymous name for Goldenhar syndrome? In addition to liver, eyeOculoauriculo and face findings,vertebral what (OAV) other syndrome organs are commonly affected? How are they affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

(Renal, neurologic and vascular abnormalities are also common) 204 Developmental Abnormalities of the Cornea

Goldenhar: Limbal (epibulbar) dermoids; lid coloboma

Goldenhar: Ear abnormalities

Goldenhar syndrome: Hemifacial microsomia 205 Developmental Abnormalities of the Cornea

Goldenhar: Limbal (epibulbar) dermoids; lid coloboma

For more on Goldenhar, see slide-set P22

Goldenhar: Ear abnormalities

Goldenhar syndrome: Hemifacial microsomia 206 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid

Are epibulbar dermoids hamartomas, or choristomas? Choristomas

With what syndrome are epibulbar dermoids associated? Goldenhar

Where on the ocular surface are epibulbar dermoids typically located? At the limbus 207 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid

Are epibulbar dermoids hamartomas, or choristomas? Choristomas

With what syndrome are epibulbar dermoids associated? Goldenhar

Where on the ocular surface are epibulbar dermoids typically located? At the limbus 208 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid

Are epibulbar dermoids hamartomas, or choristomas? Choristomas What is the difference between a hamartoma and choristoma? A hamartomaWith what is a nestsyndrome of abnor aremal epibulbar cells in their dermoids normal locat associated?ion, whereas a choristoma is the opposite--normalGoldenhar cells in an abnormal location

So then,Where from what on structurethe ocular do surfacethe ‘normal are’ choristoma epibulbar cells dermoids of an epibulbar typically dermoid located? derive? The eyelidAt the limbus 209 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid

Are epibulbar dermoids hamartomas, or choristomas? Choristomas What is the difference between a hamartoma and choristoma? With what syndrome are epibulbar dermoids associated? A hamartomaone of them is a nest of abnormal cells in their normal location, whereas a choristomathe other is the opposite--normalGoldenhar cells in an abnormal location

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid

So then,Where from what on structurethe ocular do surfacethe ‘normal are’ choristoma epibulbar cells dermoids of an epibulbar typically dermoid located? derive? The eyelidAt the(the limbusembryologic eyelid, that is) 213 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid

Are epibulbar dermoids hamartomas, or choristomas? Choristomas

With what syndrome are epibulbar dermoids associated? Goldenhar

Where on the ocular surface are epibulbar dermoids typically located? At the limbus 214 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid

Are epibulbar dermoids hamartomas, or choristomas? Choristomas

With what syndrome are epibulbar dermoids associated? Goldenhar

Where on the ocular surface are epibulbar dermoids typically located? At the limbus 215 Developmental Abnormalities of the Cornea

Goldenhar: Limbal (epibulbar) dermoids; lid coloboma

Goldenhar: Ear abnormalities

Goldenhar syndrome: Hemifacial microsomia 216 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid

Are epibulbar dermoids hamartomas, or choristomas? Choristomas

With what syndrome are epibulbar dermoids associated? Goldenhar

Where on the ocular surface are epibulbar dermoids typically located? At the limbus 217 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Megalocornea Epibulbar dermoid

Are epibulbar dermoids hamartomas, or choristomas? Choristomas

With what syndrome are epibulbar dermoids associated? Goldenhar

Where on the ocular surface are epibulbar dermoids typically located? At the limbus 218 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Epibulbar?dermoid Megalocornea ^

Are epibulbar dermoids hamartomas, or choristomas? Choristomas

With what syndrome are epibulbar dermoids associated? Goldenhar

Where on the ocularBy surfacewhat other are name epibulbar are epibulbar dermoids dermoids typically commonly located? known? At the limbus Limbal dermoids 219 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana Microcornea Posterior embryotoxon Epibulbarlimbaldermoid Megalocornea ^

Are epibulbar dermoids hamartomas, or choristomas? Choristomas

With what syndrome are epibulbar dermoids associated? Goldenhar

Where on the ocularBy surfacewhat other are name epibulbar are epibulbar dermoids dermoids typically commonly located? known? At the limbus Limbal dermoids 220 Developmental Abnormalities of the Cornea

Goldenhar syndrome: Epibulbar (aka ‘limbal’) dermoid 221 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana ? Microcornea Posterior embryotoxon ? ? Epibulbar dermoid Megalocornea ? ? ? ? 222 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana S Microcornea Posterior embryotoxon T U Epibulbar dermoid Megalocornea M P E D 223 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana S Microcornea Posterior embryotoxon T U Epibulbar dermoid Megalocornea M P E D STUMPED? What that even mean? 224 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana S Microcornea Posterior embryotoxon T U Epibulbar dermoid Megalocornea M P E D STUMPED? What that even mean? It’s a reference to the infamous STUMPED mnemonic for remembering the DDx for a cloudytwo wordscornea in an infant. 225 Developmental Abnormalities of the Cornea

Abnormalities of Abnormalities of Corneal Size or Shape Corneal Transparency

Cornea plana Peripheral Central Cornea plana S Microcornea Posterior embryotoxon T U Epibulbar dermoid Megalocornea M P E D STUMPED? What that even mean? It’s a reference to the infamous STUMPED mnemonic for remembering the DDx for a cloudy cornea in an infant. 226 Developmental Abnormalities of the Cornea

 S Start here  T  U  M  P  E  D 227 Developmental Abnormalities of the Cornea

 Sclerocornea  T Next  U  M  P  E  D 228 Developmental Abnormalities of the Cornea

 Sclerocornea  Trauma (endothelial; ie, from forceps) (Tears in Descemet’s membrane works too)  U  M  P  E  D 229 Developmental Abnormalities of the Cornea

 Sclerocornea  Trauma (endothelial; ie, from forceps)  U  M  P  E  D 230 Developmental Abnormalities of the Cornea

 Sclerocornea  Trauma (endothelial; ie, from forceps)  Ulcer  M  P  E  D 231 Developmental Abnormalities of the Cornea

 Sclerocornea  Trauma (endothelial; ie, from forceps)  Ulcer  Metabolic disorders  P  E  D 232 Developmental Abnormalities of the Cornea

 Sclerocornea  Trauma (endothelial; ie, from forceps)  Ulcer  Metabolic disorders  Peters anomaly  E  D 233 Developmental Abnormalities of the Cornea

 Sclerocornea  Trauma (endothelial; ie, from forceps)  Ulcer  Metabolic disorders  Peters anomaly

(CHED = congenital hereditary  Endothelial dystrophy (CHED) endothelial dystrophy) (Edema works too)  D 234 Developmental Abnormalities of the Cornea

 Sclerocornea  Trauma (endothelial; ie, from forceps)  Ulcer  Metabolic disorders  Peters anomaly  Endothelial dystrophy (CHED)  D 235 Developmental Abnormalities of the Cornea

 Sclerocornea  Trauma (endothelial; ie, from forceps)  Ulcer  Metabolic disorders  Peters anomaly  Endothelial dystrophy (CHED)  Dermoid of the cornea 236 Developmental Abnormalities of the Cornea

 Sclerocornea  Trauma (endothelial; ie, from forceps)  Ulcer For more on the STUMPED mnemonic, see slide-set K9  Metabolic disorders  Peters anomaly  Endothelial dystrophy (CHED)  Dermoid of the cornea