VARIABLE PHENOTYPIC EXPRESSIVITY OF BEST VITELLIFORM DYSTROPHY

Authors
LOEWENSTEIN A GODEL V GODEL L LAZAR M
Citation
A. Loewenstein et al., VARIABLE PHENOTYPIC EXPRESSIVITY OF BEST VITELLIFORM DYSTROPHY, Ophthalmic paediatrics and genetics, 14(3), 1993, pp. 131-136
Citations number
NO
Categorie Soggetti
Pediatrics,Ophthalmology
Journal title
Ophthalmic paediatrics and genetics → ACNP
ISSN journal
01676784
Volume
14
Issue
3
Year of publication
1993
Pages
131 - 136
Database
ISI
SICI code
0167-6784(1993)14:3<131:VPEOBV>2.0.ZU;2-Q
Abstract
Two families with Best's vitelliform macular dystrophy (BVMD) were inv estigated ophthalmoscopically and electrophysiologically. Pedigree exa mination confirmed the autosomal dominant heredity of this disorder wi th variable expressivity. Extrafoveal vitelline deposits were present in some asymptomatic patients, strongly suggesting that these deposits represent variable expressivity of familial BVMD.