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Article

Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease.

International journal of molecular sciences - 14 Nov 2024

Priglinger Claudia S, Gerhardt Maximilian J, Priglinger Siegfried G, Schaumberger Markus, Neuhann Teresa M, Bolz Hanno J, Mehraein Yasmin, Rudolph Guenther

Abstract excerpt

Inherited retinal dystrophies (IRDs) are a common cause of blindness or severe visual impairment in children and may occur with or without systemic associations. The aim of the present study is to describe the phenotypic and genotypic spectrum of IRDs in a pediatric patient cohort in Retrospective single-center cross-sectional analysis. Presenting symptoms, clinical phenotype, and molecular genetic diagnosis were...

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Identifiers

PMID: 39596324
DOI: 10.3390/ijms252212259
PMCID: PMC11595089

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