microphthalmia—isolated—with cataract—2

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microphthalmia—isolated—with cataract—22016-12-10T22:05:29+00:00

microphthalmia—isolated—with cataract—2

OPHTHALMOLOGY

Definition A disorder (OMIM:212550) of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissue.

Variably present ocular defects Opacities of cornea and/or lens, scarring of retina and/or choroid, nystagmus, etc.

Molecular pathology Defect of SIX6, which encodes a member of the sine oculis homeobox–SIX transcription factor family that plays a role in eye development, cause microphthalmia—isolated—with cataract—2. 

Synonyms Microphthalmia—cataract—and nystagmus, microphthalmia and cataract 2

References http://www.uniprot.org/uniprot/O95475

http://www.omim.org/entry/212550

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