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Ophthalmic Genet. 2018 Oct;39(5):637-641. doi: 10.1080/13816810.2018.1502789. Epub 2018 Aug 1.

CRX-linked macular dystrophy with intrafamilial variable expressivity.

Author information

1
a Jules-Gonin Eye Hospital, Department of Ophthalmology , University of Lausanne , Lausanne , Switzerland.
2
b IRO-Institute for Research in Ophthalmology , Sion , Switzerland.
3
c Faculty of Life Sciences , Ecole Polytechnique Fédérale de Lausanne , Lausanne , Switzerland.

Abstract

BACKGROUND:

We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX.

CASE REPORT:

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.

CONCLUSION:

We describe an intrafamilial variable expressivity of a CRX mutation causing an isolated macular dystrophy.

KEYWORDS:

CRX; macular dystrophy; mutation; variable expressivity

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