Clinical findings in a carrier of a new mutation in the choroideremia gene
Clinical findings in a carrier of a new mutation in the choroideremia gene
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DOI：
10.1016/j.ophtha.2004.04.028
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发表时间：
2004-10-01
期刊：
影响因子：
13.7
通讯作者：
McTaggart, KE
中科院分区：
文献类型：
--
作者：
Potter, MJ;Wong, E;McTaggart, KE
目的：描述的临床和分子研究结果的女性载体的一个新的突变在choroideremia（CHM）gene.Design：单干预case report.Methods：一个27岁的女人被认为是有轻微的困难与黑暗的适应和历史的视网膜变性在她的父亲和choroideremia在3个男性父亲的堂兄弟姐妹。进行视力测量、周边和色觉测试、视网膜电图（ERG）、Goldmann视野、荧光素血管造影、计算机断层扫描和DNA分析。主要结果测量：（1）视野、（2）荧光素血管造影和（3）DNA分析。右眼的视力在2个月内突然从20/30下降到10/200，然后在2年的随访中保持稳定，左眼保持20/25。Goldmann视野显示右眼中心暗点的发展与快速下降同时发生。当时散瞳眼底检查可见少量视网膜下出血，但荧光素血管造影未发现明显渗漏;之后怀疑脉络膜新生血管膜（CNV）。ERG正常。DNA分析显示，该患者是杂合子的一个以前未描述的取代突变的3 '-剪接位点的CHM基因（850-1 G到C），证实了mRNA分析与逆转录聚合酶链反应。结论：严重的视力丧失很少发生在女性携带者的无脉络膜突变。诊断应考虑在患者有适当的家族史和眼底检查结果。医生应考虑CNV发展的可能性，这可能是对异常视网膜色素上皮细胞的反应。认识到这种新的突变可能有助于确定哪些患者可以从当前和未来的治疗中受益，以防止视力丧失。(C)2004年，美国眼科学会。
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. (C) 2004 by the American Academy of Ophthalmology.