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Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.

Genes - 21 Dec 2019

Rehman Atta Ur, Peter Virginie G, Quinodoz Mathieu, Rashid Abdur, Khan Syed Akhtar, Superti-Furga Andrea, Rivolta Carlo

Abstract excerpt

Variants in more than 271 different genes have been linked to hereditary retinal diseases, making comprehensive genomic approaches mandatory for accurate diagnosis. We explored the genetic landscape of retinal disorders in consanguineous families from North-Western Pakistan, harboring a population of approximately 35 million inhabitants that remains relatively isolated and highly inbred (~50% consanguinity). We...

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Identifiers

PMID: 31877759
DOI: 10.3390/genes11010012
PMCID: PMC7017091

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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