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Variable phenotypic expressivity of Best's vitelliform dystrophy
A Loewenstein1, V Godel, L Godel
1Department of Ophthalmology, Ichilov Hospital, Tel Aviv, Israel.
Ophthalmic Paediatrics and Genetics
|September 1, 1993
Abstract:
Two families with Best's vitelliform macular dystrophy (BVMD) were investigated ophthalmoscopically and electrophysiologically. Pedigree examination confirmed the autosomal dominant heredity of this disorder with variable expressivity. Extrafoveal vitelline deposits were present in some asymptomatic patients, strongly suggesting that these deposits represent variable expressivity of familial BVMD.
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Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

