Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy.

ABSTRACT:

Purpose

Bietti crystalline dystrophy (BCD) is an autosomal recessive retinal degeneration disorder caused by mutations in CYP4V2. The aim of this study is to describe the genetic and clinical findings in 128 unrelated Chinese patients diagnosed with BCD.

Methods

Ophthalmological evaluations were performed in all patients. All coding regions of CYP4V2 were amplified and sequenced directly. Real-time quantitative PCR was performed to detect copy number variations. Haplotype analysis was performed in 70 patients with c.802-8_810del17insGC and in 93 normal controls.

Results

A total of 28 mutations in CYP4V2, including eight novel mutations, were identified in 125 patients. The most common mutation was c.802-8_810del17insGC, with an allele frequency of

SUBMITTER: Zhang X 

PROVIDER: S-EPMC6204257 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature