Romdhane Khaled, Vaclavik Veronika, Schorderet Daniel F, Munier Francis L, Viet Tran H
a Jules-Gonin Eye Hospital, Department of Ophthalmology , University of Lausanne , Lausanne , Switzerland.
b IRO-Institute for Research in Ophthalmology , Sion , Switzerland.
Ophthalmic Genet. 2018 Oct;39(5):637-641. doi: 10.1080/13816810.2018.1502789. Epub 2018 Aug 1.
We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX.
A 21-year-old Caucasian male from a Swiss family was investigated for decreasing central visual acuity associated with dischromatopsia. Clinical examination revealed posterior pole atrophy, including the maculopapillary bundle. Multimodal imaging, including autofluorescence, showed a hyperautofluorescent paramacular ring in both eyes. Genetic analysis identified a c.313C>T, p.Q105* nonsense mutation in CRX. The same mutation was identified in his father and uncle. Both of them showed signs of the disease, however with different severity.
We describe an intrafamilial variable expressivity of a CRX mutation causing an isolated macular dystrophy.
我们报告了一个家系中由CRX基因杂合无义突变导致的不同严重程度的黄斑营养不良。
一名来自瑞士家庭的21岁白种男性因中心视力下降伴色觉异常接受检查。临床检查发现后极部萎缩，包括黄斑乳头束。多模态成像，包括自发荧光成像，显示双眼黄斑旁有高自发荧光环。基因分析确定CRX基因存在c.313C>T，p.Q105*无义突变。在他的父亲和叔叔中也发现了相同的突变。他们两人都有该病的体征，但严重程度不同。
我们描述了一种由CRX突变引起的孤立性黄斑营养不良在家系中的可变表达。
