Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.

doi:10.1016/j.exer.2024.109945

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Article

Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.

Experimental eye research - 1 Jul 2024

Basharat Rabia, de Bruijn Suzanne E, Zahid Muhammad, Rodenburg Kim, Hitti-Malin Rebekkah J, Rodríguez-Hidalgo María, Boonen Erica G M, Jarral Afeefa, Mahmood Arif, Corominas Jordi, Khalil Sharqa, Zai Jawaid Ahmed, Ali Ghazanfar, Ruiz-Ederra Javier, Gilissen Christian, Cremers Frans P M, Ansar Muhammad, Panneman Daan M, Roosing Susanne

Abstract excerpt

Inherited retinal dystrophies (IRDs) are characterized by photoreceptor dysfunction or degeneration. Clinical and phenotypic overlap between IRDs makes the genetic diagnosis very challenging and comprehensive genomic approaches for accurate diagnosis are frequently required. While there are previous studies on IRDs in Pakistan, causative genes and variants are still unknown for a significant portion of patients....

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Identifiers

PMID: 38815792
DOI: 10.1016/j.exer.2024.109945

Genes

CNGA3
MERTK
TULP1
ATOH7
CNGB1
COL18A1
HGSNAT
NDP
NMNAT1
PROM1
PRPF8
SIX6
USH2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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