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Article

Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.

Indian journal of ophthalmology - 1 Dec 2016

Battu Rajani, Jeyabalan Nallathambi, Murthy Praveen, Reddy Kavita S, Schouten Jan Sag, Webers Caroll A

Abstract excerpt

PURPOSE: This study aims to describe the phenotype and genotype of two Indian families affected with X-linked choroideremia (CHM). MATERIALS AND METHODS: In these two families, the affected individuals and unaffected family members underwent a comprehensive ophthalmic examination including an optical coherence tomography (OCT) and electroretinogram. Blood samples were collected from the families for genetic...

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Identifiers

PMID: 28112135
DOI: 10.4103/0301-4738.198866
PMCID: PMC5322709

Genes

CHM
RPGR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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