Article

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with Mild Phenotype

2024-10-29

Abstract excerpt

<h4>Background: </h4> /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 highlights the phenotypic variability of CEP290-related non-syndromic IRDs, focusing on two siblings with biallelic CEP290 variants. One sibling presents with a milder phenotype, expanding the...

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Literature Corpus work: f2ba204b-8c3e-5a35-b7b5-0f1849a6c64d
DOI: 10.20944/preprints202410.2317.v1

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