A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry.

ABSTRACT:

Purpose

To comprehensively characterize the clinical consequences of the CRB1 variant p.(Pro836Thr). In African populations, this variant has an allele frequency of 0.329% (gnomAD v4.1.0).

Methods

This study was a retrospective case series of 14 patients from 11 families with molecularly confirmed CRB1-associated retinal dystrophy, each possessing at least one p.(Pro836Thr) variant. The age at onset of visual symptoms, best-corrected visual acuity, imaging findings, and quantitative electrophysiologic measurements of retinal function were analyzed.

Results

The p.(Pro836Thr) variant was homozygous in four families and compound heterozygous in seven families. The familial origins included Nigeria (n = 4), Ghana (n = 3), the Caribbean region (n = 2), and Uganda (n = 1).

SUBMITTER: Wong WM 

PROVIDER: S-EPMC12227024 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature