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Article

A novel large multi-gene deletion in syndromic choroideremia.

Ophthalmic genetics - 1 Oct 2024

Jung Emily H, Duemler Anna, Iannaccone Alessandro, Alekseev Oleg

Abstract excerpt

INTRODUCTION: Caused by mutation or deletion of the CHM gene, choroideremia is a rare X-linked recessive chorioretinal dystrophy characterized by progressive degeneration of the retinal pigment epithelium, photoreceptors, and the choriocapillaris. There are few published reports of choroideremia associated with complex syndromic phenotypes due to large or contiguous gene deletions. METHODS: Case report and review...

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Identifiers

PMID: 39257251
DOI: 10.1080/13816810.2024.2401850
PMCID: PMC11443535

Genes

CHM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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