Compound heterozygous variants in CYP4V2 and LRTOMT coinciding in a single family: a rare case of combined Bietti crystalline dystrophy and nonsyndromic hearing loss.

Abstract excerpt

OBJECTIVE: This study reports the rare co-occurrence of CYP4V2 (causing Bietti crystalline dystrophy, BCD) and LRTOMT (causing nonsyndromic hearing loss) variants within a single family and analyzes their clinical correlation. METHODS: Exome sequencing was performed on three siblings with distinct clinical phenotypes. Sanger sequencing was used for variant confirmation. Although parental data was unavailable, the...

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