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Article

Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene.

Molecular vision - 1 Jan 2022

Ali-Nasser Tahleel, Zayit-Soudry Shiri, Banin Eyal, Sharon Dror, Ben-Yosef Tamar

Abstract excerpt

Purpose: To identify the molecular mechanisms of the development of autosomal dominant retinitis pigmentosa (adRP) with incomplete penetrance in an Israeli Muslim Arab family. Methods: Two patients with adRP underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical coherence tomography, and electroretinography. Genetic analysis was performed using a combination...

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PMID: 36338669
PMCID: PMC9603903

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