Mutations in which gene account for the majority of familial cases of primary congenital glaucoma?

• A MYOC (TIGR) gene
• B OPTN gene
• C WDR36 gene
• D CYP1B1 gene ✓

Explanation

CYP1B1 on chromosome 2p21 encodes cytochrome P450 1B1 and is the major gene implicated in primary congenital glaucoma, particularly autosomal recessive familial cases. MYOC mutations cause juvenile-onset and some adult-onset primary open-angle glaucoma, OPTN is associated with normal tension glaucoma, and WDR36 is a modifier locus for adult open-angle glaucoma. This genetic distinction is a favourite examination point separating congenital from adult disease.

Reference: Khurana, Comprehensive Ophthalmology, 7th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.