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Choroideremia

Known as: Choroideremias, Progressive Tapetochoroidal Dystrophies, CHM 
An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness… 
National Institutes of Health

Related topics

Related topics

13 relations

Narrower (2)

Ayazi syndromeVan Den Bosch Syndrome
CHM geneChoroidal sclerosisEyeIn Blood

Broader (1)

Uveal Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Multimodal assessment of choroideremia patients defines pre-treatment characteristics
PurposeChoroideremia (CHM) is a X-chromosomal disorder leading to blindness by progressive degeneration of choroid, retinal… 
2014
2014
Adeno‐associated virus 8‐mediated gene therapy for choroideremia: preclinical studies in in vitro and in vivo models
Choroideremia (CHM) is a slowly progressive X‐linked retinal degeneration that results in a loss of photoreceptors, retinal… 
2003
2003
Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene
Purpose: To perform genotype-phenotype correlations in a family with choroideremia. Methods: A three-generation family with two… 
1999
1999
REP-1 gene mutations in Japanese patients with choroideremia
Abstract · Background: Choroideremia (CHM) is an X-linked progressive dystrophy of the choroid, retinal pigment epithelium, and… 
Review
1997
Review
1997
Perfusion of the subfoveal choriocapillaris affects visual recovery after submacular surgery in presumed ocular histoplasmosis syndrome.
1996
1996
Mutation analysis in Canadian families with choroideremia.
Choroideremia (CHM) is an X-linked heritable progressive dystrophy of the choroid and retina. The condition predominantly affects… 
1995
1995
Phenotype variations within a choroideremia family lacking the entire CHM gene.
A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field… 
Highly Cited
1994
Highly Cited
1994
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.
The recent isolation of the complete open reading frame of the choroideremia (CHM) gene and the characterization of the exon… 
1987
1987
Genetic studies in hydatidiform mole with clinical correlations.
1968
1968
Choroideremia in a female.
mitted on the X chromosome. The fully developed condition is confined to males who present with progressive visual loss. The age… 
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