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Article

Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.

Annales de biologie clinique - 1 Jan 2000

Ben Charfeddine Ilhem, Ben Lazreg Taheni, Ben Rayana Narjes, Amara Abdelbasset, Mamaï Ons, Knani Leila, Mili Amira, M'sakni Ahlem, Saad Ali, Ben Hadj Hamida Fafani, Gribaa Moez

Abstract excerpt

Choroideremia is a rare X-linked recessive, hereditary retinal pigment epithelial dystrophy, characterized by night blindness and progressive constriction of the visual fields leading to blindness in young adulthood. In this study, we reported three cases of choroideremia belonging to a Tunisian family. Patients complained of vision loss and night blindness. Fundus examination revealed diffused chorioretenal...

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Identifiers

PMID: 26411914
DOI: 10.1684/abc.2015.1052

Genes

CHM

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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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Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.PMID 26411914Read ↗

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