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Article

RPE65 c.353G>A, p.(Arg118Lys): A Novel Point Mutation Associated with Retinitis Pigmentosa and Macular Atrophy

International journal of molecular sciences - 10 Sept 2022

Bjeloš Mirjana, Bušić Mladen, Ćurić Ana, Šarić Borna, Bosnar Damir, Marković Leon, Kuzmanović Elabjer Biljana, Rak Benedict

Abstract excerpt

Precise genetic diagnosis in RPE65-mediated retinitis pigmentosa (RP) is necessary to establish eligibility for genetic treatment with voretigene neparvovec: a recombinant adeno-associated viral vector providing a functional RPE65 gene. This case report aims to report a novel RP-related point mutation RPE65 c.353G>A, p.(Arg118Lys), a variant of uncertain significance associated with a severe clinical presentation...

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Identifiers

PMID: 36142423
DOI: 10.3390/ijms231810513
PMCID: PMC9501323

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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