Systematic review of genotype-phenotype associations in <i>CRX</i>-associated retinal dystrophies.

ABSTRACT:

Background and objectives

CRX-associated retinal dystrophies (CRX-RDs) exhibit significant genotype-phenotype heterogeneity. This study aimed to elucidate the genotype-phenotype associations of CRX through a systematic analysis of the reported cases.

Methods

84 studies, including 373 worldwide participants, were reviewed. These studies were checked for quality using Murad's tool for methodological quality and synthesis of case series and case reports. Clinical data, fundus imaging characteristics and genetic pathogenic variants were analysed.

Results

The quality analysis revealed an overall good quality of the dataset, with some exceptions that do not detract from this trend. A predominance of cone-rod dystrophy (CRD) and Leber congenital amaurosi

SUBMITTER: Banjak M 

PROVIDER: S-EPMC11938251 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature