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Article

Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa.

Ophthalmic genetics - 1 Aug 2018

Jauregui Ruben, Park Karen Sophia, Tsang Stephen H

Abstract excerpt

BACKGROUND: The RPE65 gene was recently described to cause autosomal dominant retinitis pigmentosa (adRP), presenting with a phenotype resembling choroideremia. This study presents the 2-year progression of RPE65 adRP in a patient. METHODS: This is an observational case report of one patient. The patient received a full ophthalmic examination during both visits, including diagnostic imaging such as spectral...

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Source

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Identifiers

PMID: 29947567
DOI: 10.1080/13816810.2018.1484929
PMCID: PMC6314189

Genes

RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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