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Article

Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients.

Ophthalmic genetics - 1 Dec 2019

Albarry Maan Abdullah, Hashmi Jamil Amjad, Alreheli Ahdab Qasem, Albalawi Alia M, Khan Bushra, Ramzan Khushnooda, Basit Sulman

Abstract excerpt

Background: Retinitis pigmentosa (RP) is a heterogeneous group of ocular dystrophy. It is challenging to identify the underlying genetic defect in individuals with RP due to huge genetic heterogeneity. This study was designed to delineate the genetic defect(s) underlying RP in extended Saudi families and to describe the possible disease mechanism.Materials and Methods: Fundus photography and a high definition...

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Identifiers

PMID: 31833436
DOI: 10.1080/13816810.2019.1703014

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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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