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Whole Exome Sequencing Unveils Novel Pathogenic Variants in an Iranian Cohort with Retinal Dystrophies: Implications for Genetic Diagnosis and Counseling

1 Aug 2026

Abstract excerpt

BACKGROUND: Retinal dystrophies (RD) are a heterogeneous group of genetic disorders leading to progressive vision loss. The notable gap in the genetics of RD is primarily due to unidentified disease genes and variants. Advanced genotyping technologies present significant opportunities for the identification of causative variants, thereby contributing to improved disease management. METHODS: This study...

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Cerebrovascular and genetic disorders
Retinal Development and Disorders
Retinopathy of Prematurity Studies

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 42624176
DOI: 10.1016/j.mcp.2026.102084

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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