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Article

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.

Molecular vision - 1 Jan 2020

Al-Bdour Muawyah, Pauleck Svenja, Dardas Zain, Barham Raghda, Ali Dema, Amr Sami, Mustafa Lina, Abu-Ameerh Mohammed, Maswadi Ranad, Azab Belal, Awidi Abdalla

Abstract excerpt

Purpose: The aim of this study is to identify disease-causing variants in five consanguineous Jordanian families with a history of autosomal recessive retinitis pigmentosa (RP), and to investigate the clinical variability across the affected individuals. Methods: Exome sequencing (ES) and ophthalmic examinations were performed to classify the underlying RP-causative variants and their pathogenic consequences. The...

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PMID: 32587456
PMCID: PMC7305691

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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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