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EARLY FINDINGS FROM A NATURAL HISTORY STUDY OF PATIENTS WITH THE PATHOGENIC p.Gly208Asp PRPH2 VARIANT ASSOCIATED WITH RETINAL DYSTROPHY.

Retina (Philadelphia, Pa.) - 1 Mar 2026

AlAshwal Shadi M, Kako Rasha, Kalaw Fritz Gerald P, Walker Evan, Tran Melanie, Wagner Naomi E, Nagel Ines, Yassin Shaden, Most Jesse, Borooah Shyamanga

Abstract excerpt

PURPOSE: The aim of this study was to describe the longitudinal retinal degenerative changes associated with the p.Gly208Asp PRPH2 variant using multimodal imaging. METHODS: A prospective, longitudinal cohort study was conducted, including seven patients heterozygous for the pathogenic p.Gly208Asp PRPH2 variant and nine age-matched controls. Demographics and best-corrected visual acuity (BCVA) were obtained....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41212986
DOI: 10.1097/IAE.0000000000004712

Genes

PRPH2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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