Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance

Felbor, U, Suvanto, E A, Forsius, H R, Eriksson, A W und Weber, Bernhard H. F. (1997) Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. The American Journal of Human Genetics 60 (1), S. 57-62.

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Zusammenfassung

Sorsby fundus dystrophy (SFD) originally was characterized as an autosomal dominant disorder in which patients lose central vision during the 4th or 5th decade of life. Since Sorsby's initial description, interfamilial phenotypic variations have been noted and have given rise to controversy as to whether SFD constitutes more than one nosologic entity. In addition, several reports have proposed ...