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Article

Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research - 1 Jun 2026

Aghajani Jafar, Doosti Abbas, Jafarinia Mojtaba, Forouzanfar Mohsen, Ahmadi Shadmehri Aazam

Abstract excerpt

Inherited retinal disorders (IRDs) are genetically heterogeneous vision disorders, including conditions such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), and congenital achromatopsia. This study aimed to identify the underlying genetic causes of IRDs in six consanguineous Iranian families. We performed whole-exome sequencing (WES) on probands from six families with IRDs. Putative pathogenic...

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Identifiers

PMID: 41217041
DOI: 10.1177/10815589251388963

Genes

CNGB3
IFT140
MERTK
RPE65
TULP1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 2026.

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