A review of the clinical and genetic aspects of aniridia.

[aniridia]

Aniridia classically presents with a bilateral congenital absence or malformation of the irides , foveal hypoplasia , and nystagmus , and patients tend to develop visually significant pre-senile cataracts and keratopathy . Additionally , they are at high risk for developing glaucoma . Classic aniridia can be genetically defined as the presence of a PAX 6 gene deletion or loss -of-function mutation that results in haploinsufficiency . Variants of aniridia , which include a condition previously referred to as autosomal dominant keratitis , are likely due to PAX 6 mutations that lead to partial loss of PAX 6 function . Aniridia -associated keratopathy (AAK ) is a progressive and potentially debilitating problem affecting aniridic patients . The current treatments for AAK are to replace the limbal stem cells through keratolimbal allograft (KLAL ) with or without subsequent keratoplasty for visual rehabilitation , or to implant a Boston type 1 keratoprosthesis . Future therapies for AAK may be aimed at the genetic modification of corneal limbal stem cells .

Diseases
Validation

Diseases presenting "partial loss" symptom

aniridia

cadasil

kindler syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

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