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Borsari G. 1, Hadjistilianou T. 1, Passerini I. 2, Marozza A. 3, Renieri A. 3, Motolese E. 1
1 U.C. Oftalmologia, Dipartimento di Chirurgia, Università di Siena, Siena, Italia
2 Dipartimento di Diagnostica Genetica, AOU Careggi, Firenze, Italia
3 U.O.C. Genetica Medica, Dipartimento di Biologia Molecolare, Università di Siena, Siena, Italia
Best’s disease, or vitelliform macular dystrophy, is an autosomal dominant retinal degeneration with variable penetrance and expressivity even within the same family. The disease is due to mutations of the VMD2 gene on the long arm of chromosome 11 (11q13). We examined a 6 and a half-year-old boy with pre-vitelliform stage of Best’s disease in the left eye and vitelliform degeneration in the right eye. History taking revealed that the child’s maternal aunt was affected with Best’s disease (resorption stage in both eyes). Genetic analysis of peripheral blood of the boy, both parents, and the maternal aunt revealed heterozygosity of mutation p.Ile295Ser of the VMD2 gene in the boy, his mother and maternal aunt. This mutation in patients with Best’s disease has never been reported so far in the literature.