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Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.

Molecular vision - 1 Jan 2025

Asghar Aleesha, Wazir Sumbal, Fatima Shehzeen, Bilal Hussan, Shoaib Muhammad, Rehman Saqib Ur, Altaf Sumaira, Li Yumei, Afshan Kiran, Chen Rui, Firasat Sabika

Abstract excerpt

Background: Inherited retinal dystrophies (IRDs) represent a clinically and genetically heterogeneous group of genetic disorders that involve photoreceptors and/or retinal pigment epithelium degeneration. IRDs may occur as an isolated condition or may represent an ocular manifestation of a multisystemic disorder referred as syndromic IRD. To increase the understanding of the molecular determinants of syndromic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40384762
PMCID: PMC12085215

Genes

USH2A
ARL6
MYO7A
ARL2BP
CLN5
COL2A1
PCDH15

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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