cataract 1—multiple types

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cataract 1—multiple types2016-11-25T07:10:18+00:00

cataract 1—multiple types 

OPHTHALMOLOGY

An inherited cataract* (OMIM:116200), which takes various clinical forms, including congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types. In some cases, cataract 1—multiple types is associated with microcornea without any other systemic anomaly or dysmorphism.

*An opacification of the crystalline lens of the eye that often results in visual impairment or blindness. Cataracts vary in morphology, are often confined to a portion of the lens, and may be static or progressive.

Molecular pathology Defects of GJA8, which encodes a calcium and pH-dependent transmembrane connexin protein required for lens growth and maturation of lens fibre cells, cause cataract 1—multiple types. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA8

http://www.uniprot.org/uniprot/P48165

 

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