cataract 5—multiple types

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cataract 5—multiple types2016-11-25T07:07:17+00:00

cataract 5—multiple types 

OPHTHALMOLOGY

Definition A condition (OMIM:116800) characterised by cataracts of various types–infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type, among others, variably accompanied by finger malformations in some kindreds.

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

Molecular pathology Defects of HSF4, which encodes a heat-shock transcription factor thought to down-regulate DNA-binding activity, cause cataract 5—multiple types. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSF4 

http://www.uniprot.org/uniprot/Q9ULV5

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