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.