Anterior Segment Dysgenesis

Home , Arcus senilis, Megalocornea, Ocular ischemic syndrome

In terms of the fundamental embryological disorder involved, anterior segment dysgenesis is what sort of condition? Anterior Segment Dysgenesis

In terms of the fundamental embryological disorder involved, anterior segment dysgenesis is what sort of condition? A neurocristopathy Anterior Segment Dysgenesis

In terms of the fundamental embryological disorder involved, anterior segment dysgenesis is what sort of condition? A neurocristopathy

What is a neurocristopathy? Anterior Segment Dysgenesis

In terms of the fundamental embryological disorder involved, anterior segment dysgenesis is what sort of condition? A neurocristopathy

What is a neurocristopathy? A congenital/developmental abnormality owing to flawed neural-crest cell migration or differentiation Anterior Segment Dysgenesis

In terms of the fundamental embryological disorder involved, anterior segment dysgenesis is what sort of condition? A neurocristopathy

What is a neurocristopathy? A congenital/developmental abnormality owing to flawed neural-crest cell migration or differentiation

What is/are neural crest cells? Anterior Segment Dysgenesis

In terms of the fundamental embryological disorder involved, anterior segment dysgenesis is what sort of condition? A neurocristopathy

What is a neurocristopathy? A congenital/developmental abnormality owing to flawed neural-crest cell migration or differentiation

What is/are neural crest cells? A special subpopulation of neuroectodermal cells that migrate across the embryo and deposit themselves at a wide variety of locations, eventually differentiating into many distinct tissues Anterior Segment Dysgenesis

Neural crest cell differentiation (for demo purposes only; don’t memorize) Anterior Segment Dysgenesis

In terms of the fundamental embryological disorder involved, anterior segment dysgenesis is what sort of condition? A neurocristopathy

What is a neurocristopathy? A congenital/developmental abnormality owing to flawed neural-crest cell migration or differentiation

Neural-crest-cell migration concerning the anterior segment occurs in three ‘waves.’ Which wave involves which future structure? First wave Second wave Third wave Anterior Segment Dysgenesis

In terms of the fundamental embryological disorder involved, anterior segment dysgenesis is what sort of condition? A neurocristopathy

What is a neurocristopathy? A congenital/developmental abnormality owing to flawed neural-crest cell migration or differentiation

Neural-crest-cell migration concerning the anterior segment occurs in three ‘waves.’ Which wave involves which future structure? First waveCorneal endothelium Second wave Third wave Anterior Segment Dysgenesis

In terms of the fundamental embryological disorder involved, anterior segment dysgenesis is what sort of condition? A neurocristopathy

What is a neurocristopathy? A congenital/developmental abnormality owing to flawed neural-crest cell migration or differentiation

In terms of the fundamental embryological disorder involved, anterior segment dysgenesis is what sort of condition? A neurocristopathy

What is a neurocristopathy? A congenital/developmental abnormality owing to flawed neural-crest cell migration or differentiation

Anterior segment dysgenesis

A very basic anatomic distinction ?? Anterior Segment Dysgenesis

Anterior segment dysgenesis

A very basic anatomic distinction Peripheral Central Anterior Segment Dysgenesis

Anterior segment dysgenesis

Peripheral Central

Two classic peripheral dysgeneses ? ? Anterior Segment Dysgenesis

Anterior segment dysgenesis

Peripheral Central

Two classic peripheral dysgeneses Posterior Axenfeld-Rieger embryotoxon syndrome Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome 2) When it is associated with Alagille syndrome ‘rule out Alagille syndrome’)

Is there such a thing as an anterior embryotoxon? Yes; arcus senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome 2) When it is associated with familial aniridia 3) When it is associated with Alagille syndrome

Is there such a thing as an anterior embryotoxon? Yes; arcus senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it alwaysWhat is a Schwalbe’s harbinger line/ring? of significant pathology? The edge or termination of Descemet’s layer Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In whatIs it three normally situations apparent is during it a significant slit-lamp examination? finding? No--it is usually too thin and posterior to be seen 1) When it is part of the Axenfeld-Rieger syndrome 2) WhenWhy itthe is line/ringassociated equivocation? with familial aniridia 3) WhenMost it refer is associated to it as Schwalbe’s with Alagille line, because syndrome that’s what it looks like during gonioscopy. However, others point out Is therethat such because a thing this structureas an anterior encirclesembryotoxon? the entire inner aspect Yes; arcusof the cornea, senilis itis is the more anterior properly embryotoxon described as a ‘ring.’ Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it alwaysWhat is a Schwalbe’s harbinger line/ring? of significant pathology? The edge or termination of Descemet’s layer Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In whatIs it three normally situations apparent is during it a significant slit-lamp examination? finding? No--it is usually too thin and posterior to be seen 1) When it is part of the Axenfeld-Rieger syndrome 2) WhenWhy itthe is line/ringassociated equivocation? with familial aniridia to ‘ruleMost out refer Alagille to it as syndrome’) Schwalbe’s line, because that’s what it looks like during gonioscopy. However, others point out Is therethat such because a thing this structureas an anterior encirclesembryotoxon? the entire inner aspect Yes; arcusof the cornea, senilis itis is the more anterior properly embryotoxon described as a ‘ring.’ Anterior Segment Dysgenesis

Normal angle anatomy: Identify the structures Anterior Segment Dysgenesis

Schwalbe’s

Normal angle anatomy: Identify the structures Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it alwaysWhat is a Schwalbe’s harbinger line/ring? of significant pathology? The edge or termination of Descemet’s layer Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In whatIs it three normally situations apparent is during it a significant slit-lamp examination? finding? No--it is usually too thin and posterior to be seen 1) When it is part of the Axenfeld-Rieger syndrome 2) WhenWhy itthe is line/ringassociated equivocation? with familial aniridia 3 Most refer to it as Schwalbe’s line, because that’s what it looks like during gonioscopy. However, others point out Is therethat such because a thing this structureas an anterior encirclesembryotoxon? the entire inner aspect Yes; arcusof the cornea, senilis itis is the more anterior properly embryotoxon described as a ‘ring.’ Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Posterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it alwaysWhat is a Schwalbe’s harbinger line/ring? of significant pathology? The edge or termination of Descemet’s layer Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In whatIs it three normally situations apparent is during it a significant slit-lamp examination? finding? No--it is usually too thin and posterior to be seen 1) When it is part of the Axenfeld-Rieger syndrome 2) WhenWhy itthe is ‘associatedline/ring’ equivocation? with familial aniridia 3) WhenMost it refer is associated to it as Schwalbe’s with Alagille line, because syndrome that’s what Whatit is looks Alagille like during syndrome? gonioscopy. However, others point out there thatsuch because a thing this as structure an anterior encirclesembryotoxon? the entire inner aspect Yes; arcusof the cornea, senilis itis is the more anterior properly embryotoxon described as a ‘ring.’ Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it alwaysWhat is a Schwalbe’s harbinger line/ring? of significant pathology? The edge or termination of Descemet’s layer Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In whatIs it three normally situations apparent is during it a significant slit-lamp examination? finding? No--it is usually too thin and posterior to be seen 1) When it is part of the Axenfeld-Rieger syndrome 2) WhenWhy itthe is ‘associatedline/ring’ equivocation? with familial aniridia 3) WhenMost it refer is associated to it as Schwalbe’s with Alagilleline, because syndrome that’s what hat isit Alagille looks like syndrome? during gonioscopy. However, others point out Arterohepaticthat because dysplasia this structure (these encircles will present the entire as innera Medicine aspect senilisof isthe the cornea, anterior it is embryotoxonmore properly described as a ‘ring.’ Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome 2) When it is associated with familial aniridia 3) When it is associated with Alagille syndrome

Is there such a thing as an anterior embryotoxon? Yes; arcus senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome 2) When it is associated with familial aniridia 3) When it is associated with Alagille syndrome

Is there such a thing as an anterior embryotoxon? Yes; arcus senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome 2) When it is associated with familial aniridia 3) When it is associated with Alagille syndrome

Is there such a thing as an anterior embryotoxon? Yes; arcus senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus 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 not an eponym begin with the letter ‘A’ 2) When it is associated with aniridia 3) When it is associated with Alagilleeponym syndrome

Is there such a thing as an anterior embryotoxon? Yes; arcus senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome Interestingly, all three of these begin with the letter ‘A’ 2) When it is associated with aniridia 3) When it is associated with Alagille syndrome

Is there such a thing as an anterior embryotoxon? Yes; arcus senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

Aniridia. Note the presence of an iris stub/root Anterior Segment Dysgenesis

Anterior segment dysgenesis

Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is aniridia usuallyPeripheral unilateral, or bilateral? Central It is almost always bilateral Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes Isembryotoxon nystgamus commonly associatedsyndrome with aniridia? keratoconus Yes In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome WithMental what developmental note of aniridia’s ‘complex’ is 2)aniridia When associated? it is associated with aniridia Theocular WAGR complexassociations: 3) When it is associated with Alagille syndrome --Nystagmus Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is aniridia usuallyPeripheral unilateral, or bilateral? Central It is almost always bilateral Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes Isembryotoxonnystgamus commonly associatedsyndrome with aniridia? keratoconus Yes Is this a sensory or a motor nystagmus?In what three situations is it a significant finding? Sensory 1) When it is part of the Axenfeld-Rieger syndrome With what developmental ‘complex’ is 2)aniridia When associated? it is associated with aniridia Is Theit a jerk,WAGR or acomplex pendular nystagmus? 3) When it is associated with Alagille syndrome Pendular Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is aniridia usuallyPeripheral unilateral, or bilateral? Central It is almost always bilateral Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes Isembryotoxonnystgamus commonly associatedsyndrome with aniridia? keratoconus Yes Is this a sensory or a motor nystagmus?In what three situations is it a significant finding? Sensory 1) When it is part of the Axenfeld-Rieger syndrome With what developmental ‘complex’ is 2)aniridia When associated? it is associated with aniridia Is Theit a jerk,WAGR or acomplex pendular nystagmus? 3) When it is associated with Alagille syndrome Pendular Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is aniridia usuallyPeripheral unilateral, or bilateral? Central It is almost always bilateral Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes Isembryotoxonnystgamus commonly associatedsyndrome with aniridia? keratoconus Yes Is this a sensory or a motor nystagmus?In what three situations is it a significant finding? Sensory 1) When it is part of the Axenfeld-Rieger syndrome With what developmental ‘complex’ is 2)aniridia When associated? it is associated with aniridia Is Theit a jerk,WAGR or acomplex pendular nystagmus? 3) When it is associated with Alagille syndrome Pendular Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is aniridia usuallyPeripheral unilateral, or bilateral? Central It is almost always bilateral Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes Isembryotoxonnystgamus commonly associatedsyndrome with aniridia? keratoconus Yes Is this a sensory or a motor nystagmus?In what three situations is it a significant finding? Sensory 1) When it is part of the Axenfeld-Rieger syndrome With what developmental ‘complex’ is 2)aniridia When associated? it is associated with aniridia Is Theit a jerk,WAGR or acomplex pendular nystagmus? 3) When it is associated with Alagille syndrome Pendular Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is aniridia usuallyPeripheral unilateral, or bilateral? Central It is almost always bilateral Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes Isembryotoxon nystgamus commonly associatedsyndrome with aniridia? keratoconus Yes Is this a sensory or a motor nystagmus?In what three situations is it a significant finding? Sensory 1) When it is part of the Axenfeld-Rieger syndrome With what developmental ‘complex’ is aniridia associated? What anatomic abnormalities are responsible2) When for the it poor is associated with aniridia Is Theit a jerk,WAGR or acomplex pendular nystagmus? vision in aniridia? 3) When it is associated with Alagille syndrome Pendular Foveal and optic nerve hypoplasia Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is aniridia usuallyPeripheral unilateral, or bilateral? Central It is almost always bilateral Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes Isembryotoxon nystgamus commonly associatedsyndrome with aniridia? keratoconus Yes Is this a sensory or a motor nystagmus?In what three situations is it a significant finding? Sensory 1) When it is part of the Axenfeld-Rieger syndrome With what developmental ‘complex’ is aniridia associated? What anatomic abnormalities are responsible2) When for the it poor is associated with aniridia Is Theit a jerk,WAGR or acomplex pendular nystagmus? vision in aniridia? 3) When it is associated with Alagille syndrome Pendular Foveal and optic nerve hypoplasia Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is aniridia usuallyPeripheral unilateral, or bilateral? Central It is almost always bilateral Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes Isembryotoxon nystgamus commonly associatedsyndrome with aniridia? keratoconus Yes Is this a sensory or a motor nystagmus?In what three situations is it a significant finding? Sensory 1) When it is part of the Axenfeld-Rieger syndrome With what developmental ‘complex’ is aniridia associated? What anatomic abnormalities are responsible2) When for the it poor is associated with aniridia Is Theit a jerk,WAGR or acomplex pendular nystagmus? vision in aniridia? 3) When it is associated with Alagille syndrome Pendular Foveal and optic nerve hypoplasia Mental note of aniridia’s Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? No, only those in which the genetic mutationYes;ocular arcus is sporadic associations: senilis is the anterior embryotoxon --Nystagmus --Foveal hypoplasia --ON hypoplasia Anterior Segment Dysgenesis

Anterior segment dysgenesis

WAGR complex consists of: Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? Wilms tumor No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon Aniridia Genitourinary abnormalities Retardatio Anterior Segment Dysgenesis

Anterior segment dysgenesis

WAGR complex consists of: Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? Wilms tumor No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon WhatA niridiais the noneponymous name for Wilms tumor (ie, what sort of tumor is it)? A nephroblastomaGenitourinary abnormalities Retardation Anterior Segment Dysgenesis

Anterior segment dysgenesis

WAGR complex consists of: Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? Wilms tumor No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon WhatA niridiais the noneponymous name for Wilms tumor (ie, what sort of tumor is it)? A nephroblastomaGenitourinary abnormalities Retardation Anterior Segment Dysgenesis

WAGR complex: Wilm’s tumor Anterior Segment Dysgenesis

Anterior segment dysgenesis

Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? No, only those in which the genetic mutationYes; arcus is sporadicsporadic senilis vs is the anterior embryotoxon familial Anterior Segment Dysgenesis

Anterior segment dysgenesis

Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is aniridia usuallyPeripheral unilateral, or bilateral? Central It is almost always bilateral Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes Isembryotoxon nystgamus commonly associatedsyndrome with aniridia? keratoconus Yes In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome With what developmental ‘complex’ is 2)aniridia When associated? it is associated with aniridia The WAGR complex 3) When it is associated with Alagille syndrome Defects involving what gene are the cause of aniridia? Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? The PAX6 gene No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon What other ocular abnormalities are associated with defects of the PAX6 gene? I’m glad you asked… Anterior Segment Dysgenesis

Anterior segment dysgenesis

Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is aniridia usuallyPeripheral unilateral, or bilateral? Central It is almost always bilateral Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes Isembryotoxon nystgamus commonly associatedsyndrome with aniridia? keratoconus Yes In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome With what developmental ‘complex’ is 2)aniridia When associated? it is associated with aniridia The WAGR complex 3) When it is associated with Alagille syndrome Defects involving what gene are the cause of aniridia? Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? The PAX6 gene No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon What other ocular abnormalities are associated with defects of the PAX6 gene? I’m glad you asked… Anterior Segment Dysgenesis

Anterior segment dysgenesis

Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is aniridia usuallyPeripheral unilateral, or bilateral? Central It is almost always bilateral Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes Isembryotoxon nystgamus commonly associatedsyndrome with aniridia? keratoconus Yes In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome With what developmental ‘complex’ is 2)aniridia When associated? it is associated with aniridia The WAGR complex 3) When it is associated with Alagille syndrome Defects involving what gene are the cause of aniridia? Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? The PAX6 gene No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon What other ocular abnormalities are associated with defects of the PAX6 gene? I’m glad you asked… Anterior Segment Dysgenesis

Anterior segment dysgenesis

Why is the term ‘aniridia’ technically a misnomer? Because a rudimentary iris root is always present What is a posterior embryotoxon? An anteriorly displaced and thickened Schwalbe’s line/ring Is aniridia usuallyPeripheral unilateral, or bilateral? Central It is almost always bilateral Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes Isembryotoxon nystgamus commonly associatedsyndrome with aniridia? keratoconus Yes In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome With what developmental ‘complex’ is 2)aniridia When associated? it is associated with aniridia The WAGR complex 3) When it is associated with Alagille syndrome Defects involving what gene are the cause of aniridia? Are all aniridia cases at risk for WAGRIs complex? there such a thing as an anterior embryotoxon? The PAX6 gene No, only those in which the genetic mutationYes; arcus is sporadic senilis is the anterior embryotoxon What other ocular abnormalities are associated with defects of the PAX6 gene? I’m glad you asked… Anterior Segment Dysgenesis

What four ocular abnormalities are attributed to the PAX6 gene?

There are four main abnormalities, A and the term PAX6 acts as its own mnemonic. Start with the ‘P’ and X make your way down… 6

61 Anterior Segment Dysgenesis

What four ocular abnormalities are attributed to the PAX6 gene?

P eters anomaly A X 6

62 Anterior Segment Dysgenesis

What four ocular abnormalities are attributed to the PAX6 gene?

P eters anomaly Anirida (duh) X 6

63 Anterior Segment Dysgenesis

What four ocular abnormalities are attributed to the PAX6 gene?

P eters anomaly Anirida (duh)

Congenital cataraX (say it out loud) 6

64 Anterior Segment Dysgenesis

What four ocular abnormalities are attributed to the PAX6 gene?

P eters anomaly Anirida (duh) Congenital cataraX foveal6h ypoplasia

If you use your imagination, the 6 looks like a lower-case h… 65 Anterior Segment Dysgenesis

What four ocular abnormalities are attributed to the PAX6 gene?

P eters anomaly Anirida (duh) We know that corneal opacities and foveal hypoplasia are Congenital cataraX associated with aniridia… foveal6h ypoplasia

66 Anterior Segment Dysgenesis

What four ocular abnormalities are attributed to the PAX6 gene?

P eters anomaly Anirida (duh) We know that corneal opacities and foveal hypoplasia are Congenital cataraX associated with aniridia… foveal6h ypoplasia

…but are cataracts associated with it as well?

67 Anterior Segment Dysgenesis

What four ocular abnormalities are attributed to the PAX6 gene?

P eters anomaly Anirida (duh) We know that corneal opacities and foveal hypoplasia are Congenital cataraX associated with aniridia… foveal6h ypoplasia

…but are cataracts associated with it as well? Indeed they are

68 Anterior Segment Dysgenesis Mental note of aniridia’s ocular associations: --Nystagmus --Foveal hypoplasia --ON hypoplasia --Peters anomaly What four ocular abnormalities are attributed to the PAX6 gene? --Congenital cataracts

P eters anomaly Anirida (duh) We know that corneal opacities and foveal hypoplasia are Congenital cataraX associated with aniridia… foveal6h ypoplasia

…but are cataracts associated with it as well? Indeed they are

69 WhatAnterior sort of geneSegment is PAX6 Dysgenesis anyway? A homeobox gene

What is a homeobox gene? One that regulates morphogenesis

What four ocular abnormalities are attributed to the PAX6 gene?

P eters anomaly Anirida (duh) Congenital cataraX foveal6h ypoplasia

If you use your imagination, the 6 looks like a lower-case h… 70 WhatAnterior sort of geneSegment is PAX6 Dysgenesis anyway? A homeobox gene

What is a homeobox gene? One that regulates morphogenesis

What four ocular abnormalities are attributed to the PAX6 gene?

P eters anomaly Anirida (duh) Congenital cataraX foveal6h ypoplasia

If you use your imagination, the 6 looks like a lower-case h… 71 WhatAnterior sort of geneSegment is PAX6 Dysgenesis anyway? A homeobox gene

What is a homeobox gene? One that regulates morphogenesis

What four ocular abnormalities are attributed to the PAX6 gene?

P eters anomaly Anirida (duh) Congenital cataraX foveal6h ypoplasia

If you use your imagination, the 6 looks like a lower-case h… 72 WhatAnterior sort of geneSegment is PAX6 Dysgenesis anyway? A homeobox gene

What is a homeobox gene? One that regulates morphogenesis

What four ocular abnormalities are attributed to the PAX6 gene?

P eters anomaly Anirida (duh) Congenital cataraX foveal6h ypoplasia

If you use your imagination, the 6 looks like a lower-case h… 73 WhatAnterior sort of geneSegment is PAX6 Dysgenesis anyway? A homeobox gene

As the BCSC Peds book putsWhat it, “The is a PAX6 homeoboxgene is gene? the master control gene for eye morphogenesis.” One that regulates morphogenesis

What four ocular abnormalities are attributed to the PAX6 gene?

P eters anomaly Anirida (duh) Congenital cataraX foveal6h ypoplasia

If you use your imagination, the 6 looks like a lower-case h… 74 Anterior Segment Dysgenesis

Why is sporadic aniridia associated with Wilms tumor, but not familial aniridia? The PAX6 gene and the Wilms tumorAnterior gene (called segment WT1 ) are adjacent to one another on chromosome 11p. Inherited genetic abnormalitiesdysgenesis leading to familial aniridia are located within the PAX6 gene itself, and thus do not affect the viability of the nearby WT1. In contrast, sporadic casesWhy of aniridia is the term are ‘aniridia’ usually technically the result a ofmisnomer? the wholesale deletion of a chunk of genetic material in Because a rudimentary iris root is always present the PAX6 ‘neighborhood.’ And since WT1What is itsis anext-door posterior neighboembryotoxon?r, it is often affected as well by these deletions. Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring BecauseIs aniridia of the usually PAX6/WT1 unilateral, spatial or bilateral? relationship, all infants presenting with sporadic aniridia must It is almost always bilateral undergo genetic screening for the WilmsIs ittumor always defect. a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes If a childIsembryotoxon nystgamus tests positive commonly for the associated Wilmssyndrome tumorwith aniridia? defect, how shouldkeratoconus they be screened for Wilms tumor? Via periodicYes renal ultrasound In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome How often,With what and developmental for how long? ‘complex’ is 2)aniridia When associated? it is associated with aniridia EveryThe 3 months WAGR complexuntil age 7 years 3) When it is associated with Alagille syndrome

Why is sporadic aniridia associated with Wilms tumor, but not familial aniridia? The PAX6 gene and the Wilms tumorAnterior gene (called segment WT1 ) are adjacent to one another on chromosome 11p . Inherited genetic abnormalitiesdysgenesis leading to familial aniridia are located within the PAX6 gene itself, and thus do not affect the viability of the nearby WT1. In contrast, sporadic casesWhy of aniridia is the term are ‘aniridia’ usually technically the result a ofmisnomer? the wholesale deletion of a chunk of genetic material in Because a rudimentary iris root is always present the PAX6 ‘neighborhood.’ And since WT1What is itsis anext-door posterior neighboembryotoxon?r, it is often affected as well by these deletions. Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring BecauseIs aniridia of the usually PAX6/WT1 unilateral, spatial or bilateral? relationship, all infants presenting with sporadic aniridia must It is almost always bilateral undergo genetic screening for the WilmsIs ittumor always defect. a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes If a childIsembryotoxon nystgamus tests positive commonly for the associated Wilmssyndrome tumorwith aniridia? defect, how shouldkeratoconus they be screened for Wilms tumor? Via periodicYes renal ultrasound In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome How often,With what and developmental for how long? ‘complex’ is 2)aniridia When associated? it is associated with aniridia EveryThe 3 months WAGR complexuntil age 7 years 3) When it is associated with Alagille syndrome

 Nystgamus is commonly associated True

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

 Presents unilaterally and bilaterally in roughly equal rates False; it is Mentalalmost note ofalways aniridia’s bilateral ocular associations: Peters anomaly  The term ‘aniridia’ is a misnomer because, in about ½ of cases, a --Nystagmus --Fovealrudimentary hypoplasia iris root is present False; it’s a misnomer because a --ON rudimentaryhypoplasia iris root is always present --Peters anomaly --Congenital Aniridia cataracts is strongly associated with foveal and optic nerve hypoplasia --? Two more aniridia associations --? weTrue have yet to mention  Patients complain of (and infants suffer from) photophobia True

 Familial cases are at risk for Wilms tumor False; 1/3 of sporadic cases develop Wilms tumor as part of the WAGR complex

 Aniridia is associated with glaucomaAngle-related True condition 85  Aniridia is associated with early-onset cataracts True Anterior Segment Dysgenesis

 Nystgamus is commonly associated True

 Aniridia is associated with limbal stem cell deficiency True

 Presents unilaterally and bilaterally in roughly equal rates False; it is Mentalalmost note ofalways aniridia’s bilateral ocular associations: Peters anomaly  The term ‘aniridia’ is a misnomer because, in about ½ of cases, a --Nystagmus --Fovealrudimentary hypoplasia iris root is present False; it’s a misnomer because a --ON rudimentaryhypoplasia iris root is always present --Peters anomaly --Congenital Aniridia cataracts is strongly associated with foveal and optic nerve hypoplasia --Limbal stem-cell deficiency --GlaucomaTrue  Patients complain of (and infants suffer from) photophobia True

 Familial cases are at risk for Wilms tumor False; 1/3 of sporadic cases develop Wilms tumor as part of the WAGR complex

 Aniridia is associated with glaucoma True

86  Aniridia is associated with early-onset cataracts True Anterior Segment Dysgenesis

 Nystgamus is commonly associated True

 Aniridia is associated with limbal stem cell deficiency True

 Presents unilaterally and bilaterally in roughly equal rates False; it is Mentalalmost note ofalways aniridia’s bilateral ocular associations: Peters anomaly  The term ‘aniridia’ is a misnomer because, in about ½ of cases, a --Nystagmus --Fovealrudimentary hypoplasia iris root is presentOne False; final it’s pointa misnomer regarding becaus eaniridia: a --ON rudimentaryhypoplasia iris root is always present --Peters anomaly --Congenital Aniridia cataracts is strongly associated with foveal and optic nerve hypoplasia --Limbal stem-cell deficiency --GlaucomaTrue  Patients complain of (and infants suffer from) photophobia True

 Familial cases are at risk for Wilms tumor False; 1/3 of sporadic cases develop Wilms tumor as part of the WAGR complex

 Aniridia is associated with glaucoma True

87  Aniridia is associated with early-onset cataracts True Anterior Segment Dysgenesis

 Nystgamus is commonly associated True

 Aniridia is associated with limbal stem cell deficiency True

 Presents unilaterally and bilaterally in roughly equal rates False; it is almost always bilateral Peters anomaly Don’t The think term of aniridia ‘aniridia’ as justis a misnomer because, in about ½ of cases, a an irisrudimentary condition! The iris BCSCroot is presentOne False; final it’s pointa misnomer regarding becaus eaniridia: a refersrudimentary to it as a iris root is always present panophthalmic disorder  Aniridia is strongly associated with foveal and optic nerve hypoplasia True

 Patients complain of (and infants suffer from) photophobia True

 Familial cases are at risk for Wilms tumor False; 1/3 of sporadic cases develop Wilms tumor as part of the WAGR complex

 Aniridia is associated with glaucoma True

88  Aniridia is associated with early-onset cataracts True Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant, but the expressivity variesIs it alwayswidely a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation? syndrome An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome chin. Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon commonly affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

Renal, neurological and vascular abnormalities are common as well. Anterior Segment Dysgenesis

Anterior segment dysgenesis

Renal, neurological and vascular abnormalities are common as well. Anterior Segment Dysgenesis

Anterior segment dysgenesis

Renal, neurological and vascular abnormalities are common as well. Anterior Segment Dysgenesis

Anterior segment dysgenesis

Renal, neurological and vascular abnormalities are common as well. Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant, but the expressivity variesIs it alwayswidely a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation vissyndrome a vis us eye dentists? An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome chin. Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon commonly affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

Renal, neurological and vascular abnormalities are common as well. Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant, but the expressivity variesIs it alwayswidely a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation vissyndrome a vis us eye dentists? An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome chin. Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon commonly affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

Renal, neurological and vascular abnormalities are common as well. Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant, but the expressivity variesIs it alwayswidely a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation vissyndrome a vis us eye dentists? An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome chin. Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon commonly affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

Renal, neurological and vascular abnormalities are common as well. Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant, but the expressivity variesIs it alwayswidely a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation vissyndrome a vis us eye dentists? An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome chin. Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon commonly affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

Renal, neurological and vascular abnormalities are common as well. Anterior Segment Dysgenesis

Alagille syndrome: Facies Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant, but the expressivity variesIs it alwayswidely a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation vissyndrome a vis us eye dentists? An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome chin. Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon commonly affected? --The heart: Septal defects, PDA, and tetralogy of Fallot are common --The skeleton: The classic finding is ‘butterfly vertebrae’

Renal, neurological and vascular abnormalities are common as well. Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant, but the expressivity variesIs it alwayswidely a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation vissyndrome a vis us eye dentists? An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome chin. Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon commonly affected? --The heart Septal(three classic defects, manifestations) PDA, and tetralogy of Fallot are common --The skeleton The(one classic classic findingmanifestation) is ‘butterfly vertebrae’

Renal, neurological and vascular abnormalities are common as well. Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant, but the expressivity variesIs it alwayswidely a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation vissyndrome a vis us eye dentists? An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome chin. Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon commonly affected? How are they affected? --The heart: Septal(three classic defects, manifestations) PDA, and tetralogy of Fallot are common --The skeleton: The(one classicclassic manifestation)finding is ‘butterfly vertebrae’

Renal, neurological and vascular abnormalities are common as well. Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant, but the expressivity variesIs it alwayswidely a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation vissyndrome a vis us eye dentists? An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome chin. Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon 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 common as well.) Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant, but the expressivity variesIs it alwayswidely a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation vissyndrome a vis us eye dentists? An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome chin. Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon 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 common as well.) Anterior Segment Dysgenesis

Alagille syndrome: Butterfly vertebrae Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant,Another but the expressivitysyndrome of varies ophthalmicIs it alwayswidely concern a harbinger includes of butterfly significant pathology? Posteriorvertebrae Axenfeld-Riegeras a finding. No;What it isis it?found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation?Goldenhar syndromesyndrome An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? In two words, what sort1) of When condition it is is part Goldenhar? of the Axenfeld-Rieger syndrome A craniofacial malformation Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome What is the noneponymous name for Goldenhar syndrome? chin. Oculo-auricular-vertebral (OAV) syndrome Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon 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 common as well.) Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant,Another but the expressivitysyndrome of varies ophthalmicIs it alwayswidely concern a harbinger includes of butterfly significant pathology? Posteriorvertebrae Axenfeld-Riegeras a finding. No;What it isis it?found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation?Goldenhar syndromesyndrome An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? In two words, what sort1) of When condition it is is part Goldenhar? of the Axenfeld-Rieger syndrome A craniofacial malformation Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome What is the noneponymous name for Goldenhar syndrome? chin. Oculo-auricular-vertebral (OAV) syndrome Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon 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 common as well.) Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant,Another but the expressivitysyndrome of varies ophthalmicIs it alwayswidely concern a harbinger includes of butterfly significant pathology? Posteriorvertebrae Axenfeld-Riegeras a finding. No;What it isis it?found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation?Goldenhar syndromesyndrome An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? In two words, what sort1) of When condition it is is part Goldenhar? of the Axenfeld-Rieger syndrome A craniofacial malformation Alagille pts have a characteristic twofaci wordsal appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome What is the noneponymous name for Goldenhar syndrome? chin. Oculo-auricular-vertebral (OAV) syndrome Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon 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 common as well.) Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant,Another but the expressivitysyndrome of varies ophthalmicIs it alwayswidely concern a harbinger includes of butterfly significant pathology? Posteriorvertebrae Axenfeld-Riegeras a finding. No;What it isis it?found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation?Goldenhar syndromesyndrome An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? In two words, what sort1) of When condition it is is part Goldenhar? of the Axenfeld-Rieger syndrome A craniofacial malformation Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome What is the noneponymous name for Goldenhar syndrome? chin. Oculo-auricular-vertebral (OAV) syndrome Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon 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 common as well.) Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant,Another but the expressivitysyndrome of varies ophthalmicIs it alwayswidely concern a harbinger includes of butterfly significant pathology? Posteriorvertebrae Axenfeld-Riegeras a finding. No;What it isis it?found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation?Goldenhar syndromesyndrome An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? In two words, what sort1) of When condition it is is part Goldenhar? of the Axenfeld-Rieger syndrome A craniofacial malformation Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome What is the noneponymous name for Goldenhar syndrome? chin. Oculo-auricular-vertebral (OAV) syndrome Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon 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 common as well.) Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is the noneponymous name of AlagilleWhat syndrome? is a posterior embryotoxon? Arterohepatic dysplasiaPeripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring How is it inherited? Autosomal dominant,Another but the expressivitysyndrome of varies ophthalmicIs it alwayswidely concern a harbinger includes of butterfly significant pathology? Posteriorvertebrae Axenfeld-Riegeras a finding. No;What it isis it?found in aboutPosterior 15% of otherwisePeters normal anomaly eyes What is the classic presentation?Goldenhar syndromesyndrome An infantembryotoxon with jaundice who presents to the eye service as a ‘rulekeratoconus out Alagille syndrome’ consult In what three situations is it a significant finding? In two words, what sort1) of When condition it is is part Goldenhar? of the Axenfeld-Rieger syndrome A craniofacial malformation Alagille pts have a characteristic facial appearance--in2) When it a is word, associated what is it? with aniridia ‘Triangular.’ They have a broad forehead, and3) theirWhen face it istapers associated to a pointy with Alagille syndrome What is the noneponymous name for Goldenhar syndrome? chin. Oculo-auricular-vertebral (OAV) syndrome Is there such a thing as an anterior embryotoxon? In addition to liver, eye and face findings, what other organs are Yes; arcus senilis is the anterior embryotoxon 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 common as well.) Anterior Segment Dysgenesis

Goldenhar: Limbal (epibulbar) dermoids; lid coloboma (OCULO-auriculo-vertebral syndrome)

Goldenhar: Ear abnormalities (Oculo-AURICULO-vertebral syndrome) Goldenhar syndrome: Hemifacial microsomia 110 Anterior Segment Dysgenesis

Goldenhar: Limbal (epibulbar) dermoids; lid coloboma (OCULO-auriculo-vertebral syndrome)

For more on Goldenhar, see slide-set P22

Goldenhar: Ear abnormalities (Oculo-AURICULO-vertebral syndrome) Goldenhar syndrome: Hemifacial microsomia 111 Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome 2) When it is associated with aniridia 3) When it is associated with Alagille syndrome

Is there such a thing as an anterior embryotoxon? Arcus juvenilis Yes; arcus senilis is the anterior embryotoxon aka anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome 2) When it is associated with aniridia 3) When it is associated with Alagille syndrome

Is there such a thing as an anterior embryotoxon? Arcus juvenilis Yes--it is another name for arcus juvenilis aka anterior embryotoxon Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome 2) When it is associated with aniridia 3) When it is associated with Alagille syndrome

Is there such a thing as an anterior embryotoxon? Arcus juvenilis Yes--it is another name for arcus juvenilis aka anterior What is arcus juvenilis? embryotoxon It is the congenital version of arcus senilis Anterior Segment Dysgenesis

Anterior segment dysgenesis

What is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring

Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerNo; it is found in aboutPosterior 15% of otherwisePeters normal anomaly eyes embryotoxon syndrome keratoconus In what three situations is it a significant finding? 1) When it is part of the Axenfeld-Rieger syndrome Corneal 2) When it is associated with aniridia arcus 3) When it is associated with Alagille syndrome

Is there such a thing as an anterior embryotoxon? Arcus juvenilis Arcus senilis Yes--it is another name for arcus juvenilis aka anterior What is arcus juvenilis? embryotoxon It is the congenital version of arcus senilis Anterior Segment Dysgenesis

Arcus senilis Anterior Segment Dysgenesis

AnteriorRegarding arcussegment senilis… Whatdysgenesis is its main chemical component? Cholesterol

Is it usually unilateral, or bilateral? BilateralWhat is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring Is it a dystrophy? No; per the Cornea book, it is an “involutional change” Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerInNo; what it ispattern found does in about it typicallyPosterior 15% declare of otherwise itself?Peters normal anomaly eyes embryotoxon syndromeIt starts at the poles, thenkeratoconus spreads circumferentially In what three situations is it a significant finding? Does1) When it exhibit it is a part gender of thepredilection? Axenfeld-Rieger syndrome Yes, men are more likely to develop it Corneal 2) When it is associated with aniridia 3) When it is associated with Alagille syndrome arcus Does it exhibit a racial predilection? Yes, it is more common in AAs Is there such a thing as an anterior embryotoxon? Arcus juvenilis Arcus senilis DoesYes--it its isprevalence another increasename for with arcus age? juvenilis aka Yes; after age 80 , the prevalence is ~100% anterior What is arcus juvenilis? embryotoxon It is the congenital version of arcus senilis Anterior Segment Dysgenesis

AnteriorRegarding arcussegment senilis… Whatdysgenesis is its main chemical component? Cholesterol

Is it usually unilateral, or bilateral? BilateralWhat is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring Is it a dystrophy? No; per the Cornea book, it is an “involutional change” Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerInNo; what it ispattern found does in about it typicallyPosterior 15% declare of otherwise itself?Peters normal anomaly eyes embryotoxon syndromeIt starts at the poles, thenkeratoconus spreads circumferentially In what three situations is it a significant finding? Does1) When it exhibit it is a part gender of thepredilection? Axenfeld-Rieger syndrome Yes, men are more likely to develop it Corneal 2) When it is associated with aniridia 3) When it is associated with Alagille syndrome arcus Does it exhibit a racial predilection? Yes, it is more common in AAs Is there such a thing as an anterior embryotoxon? Arcus juvenilis Arcus senilis DoesYes--it its isprevalence another increasename for with arcus age? juvenilis aka Yes; after age 80 , the prevalence is ~100% anterior What is arcus juvenilis? embryotoxon It is the congenital version of arcus senilis Anterior Segment Dysgenesis

AnteriorRegarding arcussegment senilis… Whatdysgenesis is its main chemical component? Cholesterol

Is it usually unilateral, or bilateral? BilateralWhat is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring Is it a dystrophy? No; per the Cornea book, it is an “involutional change” Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerInNo; what it ispattern found does in about it typicallyPosterior 15% declare of otherwise itself?Peters normal anomaly eyes embryotoxon syndromeIt starts at the poles, thenkeratoconus spreads circumferentially In what three situations is it a significant finding? Does1) When it exhibit it is a part gender of thepredilection? Axenfeld-Rieger syndrome Yes, men are more likely to develop it Corneal 2) When it is associated with aniridia 3) When it is associated with Alagille syndrome arcus Does it exhibit a racial predilection? Yes, it is more common in AAs Is there such a thing as an anterior embryotoxon? Arcus juvenilis Arcus senilis DoesYes--it its isprevalence another increasename for with arcus age? juvenilis aka Yes; after age 80 , the prevalence is ~100% anterior What is arcus juvenilis? embryotoxon It is the congenital version of arcus senilis Anterior Segment Dysgenesis

AnteriorRegarding arcussegment senilis… Whatdysgenesis is its main chemical component? Cholesterol

Is it usually unilateral, or bilateral? BilateralWhat is a posterior embryotoxon? Peripheral An anteriorly displaced and thickenedCentral Schwalbe’s line/ring Is it a dystrophy? No; per the Cornea book, it is an “involutional change” Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerInNo; what it ispattern found does in about it typicallyPosterior 15% declare of otherwise itself?Peters normal anomaly eyes embryotoxon syndromeIt starts at the poles, thenkeratoconus spreads circumferentially In what three situations is it a significant finding? Does1) When it exhibit it is a part gender of thepredilection? Axenfeld-Rieger syndrome Yes, men are more likely to develop it Corneal 2) When it is associated with aniridia 3) When it is associated with Alagille syndrome arcus Does it exhibit a racial predilection? Yes, it is more common in AAs Is there such a thing as an anterior embryotoxon? Arcus juvenilis Arcus senilis DoesYes--it its isprevalence another increasename for with arcus age? juvenilis aka Yes; after age 80 , the prevalence is ~100% anterior What is arcus juvenilis? embryotoxon It is the congenital version of arcus senilis Anterior Segment Dysgenesis

AnteriorRegarding arcussegment senilis… Whatdysgenesis is its main chemical component? Cholesterol

Is it usually unilateral, or bilateral? BilateralWhat is a posterior embryotoxon? PeripheralWhat conditionAn shouldanteriorly be suspected displaced if aand pt has thickenedCentral unilateral Schwalbe’sarcus? line/ring Carotid occlusiveIs it a dystrophy?dz, or ocular ischemic syndrome (OIS) No; per the Cornea book, it is an “involutional change” Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerInNo; what it ispattern found does in about it typicallyPosterior 15% declare of otherwise itself?Peters normal anomaly eyes embryotoxon syndromeIt starts at the poles, thenkeratoconus spreads circumferentially In what three situations is it a significant finding? Does1) When it exhibit it is a part gender of thepredilection? Axenfeld-Rieger syndrome Yes, men are more likely to develop it Corneal 2) When it is associated with aniridia 3) When it is associated with Alagille syndrome arcus Does it exhibit a racial predilection? Yes, it is more common in AAs Is there such a thing as an anterior embryotoxon? Arcus juvenilis Arcus senilis DoesYes--it its isprevalence another increasename for with arcus age? juvenilis aka Yes; after age 80 , the prevalence is ~100% anterior What is arcus juvenilis? embryotoxon It is the congenital version of arcus senilis Anterior Segment Dysgenesis

AnteriorRegarding arcussegment senilis… Whatdysgenesis is its main chemical component? Cholesterol

Is it usually unilateral, or bilateral? BilateralWhat is a posterior embryotoxon? PeripheralWhat conditionAn shouldanteriorly be suspected displaced if aand pt has thickenedCentral unilateral Schwalbe’sarcus? line/ring Carotid occlusiveIs it a dystrophy? dz, or ocular ischemic syndrome (OIS) No; per the Cornea book, it is an “involutional change” Is it always a harbinger of significant pathology? Posterior Axenfeld-RiegerIf arcusInNo; whatis ait sign ispattern found of carotid does in about it occlusion typicallyPosterior 15% declareor of OIS, otherwise whichitself?Peters normal anomaly eyes embryotoxon syndromeside isIt occluded/ischemic--thestarts at the poles, thenkeratoconus sidespreads with circumferentiallythe arcus, or the Inside what without threethe situations arcus? is it a significant finding? The sideDoes1) Whenwithout it exhibit it theis a part arcusgender of thepredilection? Axenfeld-Rieger syndrome Yes, men are more likely to develop it Corneal 2) When it is associated with aniridia 3) When it is associated with Alagille syndrome arcus Does it exhibit a racial predilection? Yes, it is more common in AAs Is there such a thing as an anterior embryotoxon? Arcus juvenilis Arcus senilis DoesYes--it its isprevalence another increasename for with arcus age? juvenilis aka Yes; after age 80 , the prevalence is ~100% anterior What is arcus juvenilis? embryotoxon It is the congenital version of arcus senilis Anterior Segment Dysgenesis