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The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.

Investigative ophthalmology & visual science - 1 Feb 2017

Keser Vafa, Khan Ayesha, Siddiqui Sorath, Lopez Irma, Ren Huanan, Qamar Raheel, Nadaf Javad, Majewski Jacek, Chen Rui, Koenekoop Robert K

Abstract excerpt

Purpose: To evaluate consanguineous pedigrees from Pakistan with a clinical diagnosis of nonsyndromic congenital retinal nonattachment (NCRNA) and identify genes responsible for the disease as currently only one NCRNA gene is known (atonal basic helix-loop-helix transcription factor 7: ATOH7). Methods: We implemented a three-step genotyping platform: single nucleotide polymorphism genotyping to identify loss of...

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Identifiers

PMID: 28192794
DOI: 10.1167/iovs.16-20281
PMCID: PMC5308768

Genes

ATOH7
NDP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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