Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.

ABSTRACT:

Background

Variants in RCBTB1 were recently described to cause a retinal dystrophy with only eight families described to date and a predominant phenotype of macular atrophy and peripheral reticular degeneration. Here, we further evaluate the genotypic and phenotypic characteristics of biallelic RCBTB1-associated retinal dystrophy in a North American clinic population.

Methods

A retrospective analysis of genetic and clinical features was performed in individuals with biallelic variants in RCBTB1.

Results

Three unrelated individuals of French-Canadian descent with rare biallelic RCBTB1 variants were identified. All individuals shared a novel p.(Ser342Leu) missense variant; one patient was homozygous whereas the other two each possessed a seco

SUBMITTER: Catomeris AJ 

PROVIDER: S-EPMC9177531 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature