cataract 5—multiple typesJoe Segen2016-11-25T07:07:17+00:00
cataract 5—multiple types
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.