CRX-linked macular dystrophy with intrafamilial variable expressivity. (3rd September 2018)

• Record Type: Journal Article
• Authors: Romdhane, Khaled; Vaclavik, Veronika; Schorderet, Daniel F.; Munier, Francis L.; Viet Tran, H.
• Is Part Of: Ophthalmic genetics. Volume 39:Number 5(2018)
• Page Start: 637
• Page End: 641
• Publication Date: 2018-09-03
• Subjects: CRX -- macular dystrophy -- mutation -- variable expressivity; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2018.1502789
• Languages: English
• ISSNs: 1381-6810

Abstract

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.