cataract 39—multiple types

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cataract 39—multiple types2016-11-25T07:09:01+00:00

cataract 39—multiple types 

GENETICS, OPHTHALMOLOGY

An autosomal dominant condition (OMIM:615188) characterised by opacification of the crystalline lens of the eye, typically leading to vision impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

Molecular pathology Defects of CRYGB, which encodes crystallin gamma B, an integral structural component of the vertebrate eye lens, cause cataract 39—multiple types.   

References http://www.uniprot.org/uniprot/P07316

http://www.omim.org/entry/615188

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