Literature DB >> 8115120

Variable phenotypic expressivity of Best's vitelliform dystrophy.

A Loewenstein1, V Godel, L Godel, M Lazar.   

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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Year:  1993        PMID: 8115120     DOI: 10.3109/13816819309087629

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN: 0167-6784


  2 in total

1.  [Best's disease with normal EOG. Case report of familial macular dystrophy].

Authors:  K Pollack; F R Kreuz; L E Pillunat
Journal:  Ophthalmologe       Date:  2005-09       Impact factor: 1.059

2.  Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.

Authors:  A C Cohn; C Turnbull; J B Ruddle; R H Guymer; L S Kearns; S Staffieri; H T Daggett; A W Hewitt; D A Mackey
Journal:  Eye (Lond)       Date:  2010-11-26       Impact factor: 3.775

  2 in total

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