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Ophthalmology Cataract e001167b

Congenital cataract occurs due to abnormalities in protein formation in which of the following genes?

A
PAX 6
B
SIX 5
C
CRY GS 3
D
PITX 3
High-Yield Explanation
Congenital cataract is cause due to defects in CRY GS3 gene. During embryonic development, the PAX6 protein is thought to turn on (activate) genes involved in the formation of the eyes. Aniridia is caused by mutations in the PAX6gene. SIX 5-Mutations in this gene are a cause of branchiootorenal syndrome type 2. PITX 3-This gene encodes a member of homeodomain proteins.Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts.

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