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6 year old with cat eyes

Posted by admin@meditred.com - Posted on 07/25/2015 15:05:31


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6 year old was noticed to have cat eye apperance  by mom. 20/20 vision/ IOP 28 mm HG OU. Anterior segment exam as shown in the attached pictures.  What is the corneal abnormality associated with this condition?  What is the likelyhood that ANY patient with this condition will develop glaucoma? Name 2 other conditions that have abnormal cornea, iris and anterior chamber





Diagnosis:  Axenfeld-Rieger syndrome

Autosomal dominant inheritance

Bilateral condition - results from the abnormal development of tissues from neural crest 

Corneal abnormality- Posterior embryotoxon ( prominent and anteriorly displaced Schwalbe line)

Iris abnormaility - Atrophy with corectopia, holes, ectropion uvae

Angle abnormality - iridocorneal adhesions to teh Schwalbe line 

Systemic abnormality - developmental defects of the teeth, or facial bones, redundant periumbilical skin, pituitary abnormalities, or hypospadias.

50% of these patients can develop glaucoma

DD - Other conditions with cornea, iris and anterior chamber abnormalities - Peters anamoly, ICE syndrome, Aniridia


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