Expanding the Clinical Spectrum of <i>CEP290</i> Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.

ABSTRACT: Background/Objectives: Biallelic pathogenic variants in the CEP290 gene are typically associated with severe, early-onset inherited retinal dystrophies (IRDs) in both syndromic and non-syndromic forms. This study explores the phenotypic variability of non-syndromic IRDs associated with CEP290 variants, focusing on two siblings with biallelic variants, one of whom exhibits a remarkably mild phenotype, thereby expanding the clinical spectrum. Methods: Whole-exome sequencing (WES) and mRNA analysis were performed to identify and characterize CEP290 variants in the siblings. Comprehensive ophthalmologic evaluations assessed retinal function and disease progression. Results: Two CEP290 variants, a frameshift (c.955del, p.(Ser319LeufsTer16)) and a

SUBMITTER: Esteve-Garcia A 

PROVIDER: S-EPMC11675463 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature