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Article

CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1.

Retinal cases & brief reports - 1 Jan 2000

Sengillo Jesse D, Lee Winston, Bakhoum Mathieu F, Cho Galaxy Y, Chiang John P-W, Tsang Stephen H

Abstract excerpt

PURPOSE: To report a novel synonymous mutation in CHM and the associated phenotype in an affected man and carrier mother. METHODS: Case report. RESULTS: A 34-year-old man with a long history of progressive night blindness and visual field constriction was diagnosed with choroideremia based on ocular examination and multimodal retinal imaging. Extensive chorioretinal degeneration was noted on spectral domain...

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Source

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Identifiers

PMID: 29045269
DOI: 10.1097/ICB.0000000000000647
PMCID: PMC5904013

Genes

CHM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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