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Phenotype-genotype correlation in clinically diagnosed recessive cornea plana

Poster Details

First Author: M.Diab SAUDI ARABIA

Co Author(s):    S. Eissa              

Abstract Details

Purpose:

To describe phenotype-genotype correlation in clinically-diagnosed recessive cornea plana.

Setting:

Faculty of Medicine Ain Shams Univeristy Cairo Egypt and Magrabi Hospital Aseer

Methods:

Retrospective case series of 30 clinically-diagnosed patients from 22 families who underwent genetic testing.

Results:

Small, flat corneas, variable deep corneal opacity, limbal widening/haze, early arcus lipoides, and high hyperopia (typically +8.00 to +20.00 diopters, often with accommodative esotropia) were common. Horizontal corneal ovalization and iris abnormality were less common. Progressive astigmatism and corneal decompensation were rare. All families harbored 1 of 4 distinct KERA mutations, none of which correlated with phenotypic differences

Conclusions:

Discussion: Taken together, small flat corneas, variable deep corneal opacity, limbal widening/haze, early arcus lipoides, and high hyperopia (often with accommodative esotropia) are pathognomonic features of the phenotype, which is specific for KERA mutations. Conclusion: Recessive cornea plana is a distinct phenotype caused by KERA mutations. The condition should be differentiated from other “small eye” phenotypes such as microophthalmos, microcornea, and nanophthalmos

Financial Disclosure:

NONE

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