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  • Title: Clinical findings in a carrier of a new mutation in the choroideremia gene.
    Author: Potter MJ, Wong E, Szabo SM, McTaggart KE.
    Journal: Ophthalmology; 2004 Oct; 111(10):1905-9. PubMed ID: 15465555.
    Abstract:
    OBJECTIVE: To describe the clinical and molecular findings of a female carrier of a new mutation in the choroideremia (CHM) gene. DESIGN: Single interventional case report. METHODS: A 27-year-old woman was seen with mild difficulties with dark adaptation and a history of a retinal degeneration in her father and choroideremia in 3 male paternal first cousins. Visual acuity measurements, peripheral and color vision tests, electroretinography (ERG), Goldmann visual fields, fluorescein angiogram, computed tomography scan, and DNA analysis were performed. MAIN OUTCOME MEASURES: (1) Visual fields, (2) fluorescein angiography, and (3) DNA analysis. RESULTS: Visual acuity decreased from 20/30 to 10/200 in the right eye abruptly over 2 months, then remained stable over 2 years of follow-up and remained 20/25 in the left eye. Goldmann visual fields showed development of a central scotoma in the right eye concurrent with the rapid decline. A small amount of subretinal hemorrhage was visible on dilated fundus examination at that time, but definite leakage was not evident on fluorescein angiography; afterwards, a choroidal neovascular membrane (CNV) was suspected. The ERG was normal. DNA analysis revealed that the patient was heterozygous for a previously undescribed substitution mutation at the 3'-splice site of intron 6 of the CHM gene (850-1 G to C), confirmed by mRNA analysis with reverse transcriptase polymerase chain reaction. CONCLUSIONS: Severe visual acuity loss rarely occurs in female carriers of choroideremia mutations. The diagnosis should be considered in patients with a suitable family history and fundus findings. Physicians should consider the possibility of CNV development in such patients, which may be a response to abnormal retinal pigment epithelium. Recognition of this new mutation may help identify patients who could benefit from current and future treatments to protect against vision loss.
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