Clinical and Molecular Findings in <i>PROM1</i>-Associated Inherited Retinal Dystrophies.

ABSTRACT: Background: Inherited retinal dystrophies (IRDs) include a clinically and genetically diverse array of conditions resulting in progressive visual impairment. The PROM1 gene is crucial for the development and maintenance of photoreceptors. Variants in PROM1 are linked to a wide phenotypic spectra of IRDs; however, the correlation between genotype and phenotype is not fully elucidated. Comprehending these relationships is essential for enhanced diagnostic precision, patient guidance, and formulation of focused treatments. Objective: This study aims to examine the genotype-phenotype associations in patients with PROM1-associated IRDs. Clinical variability and inheritance patterns linked to different pathogenic variants are examined, aiming to clarify their d

SUBMITTER: D'Esposito F 

PROVIDER: S-EPMC12652650 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature