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Phenotype variations within a choroideremia family lacking the entire CHM gene



Phenotype variations within a choroideremia family lacking the entire CHM gene



Ophthalmic Genetics 16(4): 143-150



A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electroretinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerable variability regarding the phenotype, including the electroretinogram tracings. Two of the affected males demonstrated a severe form of choroideremia with low or nondetectable ERG recordings, while the other two affected males showed a less severe phenotype with only a slight reduction of the ERG amplitudes. The variation of the clinical phenotype among family members carrying the same mutation indicates that the severity of choroideremia is not solely a function of the CHM gene.

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Accession: 046973717

Download citation: RISBibTeXText

PMID: 8749050

DOI: 10.3109/13816819509057855


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