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Genotypic and Phenotypic Characterization of Hexokinase 1 p.Glu847Lys Variant Causing Autosomal Dominant Pericentral Retinitis Pigmentosa.

Ophthalmic surgery, lasers & imaging retina - 1 Jun 2025

Fan Kenneth C, Wong Calvin W, Nichols Braden A, Sadat Roa, Staropoli Patrick C, Becker Troy C, Pearce William A, Rahman Effie Z, Blem Robert I, Brown David M, Wykoff Charles C, Al-Khersan Hasenin

Abstract excerpt

BACKGROUND AND OBJECTIVE: The aim of this study was to clinically and molecularly characterize the largest cohort of patients with HK1 associated retinal disease. Hexokinase 1 (HK1) variants have been reported to cause retinitis pigmentosa (RP), but a clearly defined genotype-phenotype correlation has not been well established. PATIENTS AND METHODS: A retrospective, consecutive, single-center case series was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40163632
DOI: 10.3928/23258160-20250214-02

Genes

HK1

Variants

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