Literature DB >> 869756

Hereditary vitelliform macular degeneration: variable fundus findings within a single pedigree.

W F Maloney, D M Robertson, S M Duboff.   

Abstract

A pedigree of 141 persons with hereditary vitelliform macular degeneration was studied. Of the 80 patients examined, 20 were affected. Fundus photographs of selected lesions in this pedigree demonstrated the broad spectrum of phenotypic expression of this hereditary disorder. This entity has an extremely variable expression even among affected members of the same family.

Entities:  

Mesh:

Year:  1977        PMID: 869756     DOI: 10.1001/archopht.1977.04450060065003

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  9 in total

1.  Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium.

Authors:  A D Marmorstein; L Y Marmorstein; M Rayborn; X Wang; J G Hollyfield; K Petrukhin
Journal:  Proc Natl Acad Sci U S A       Date:  2000-11-07       Impact factor: 11.205

2.  Best's multiple vitelliform degeneration.

Authors:  A Pece; G Gaspari; P Avanza; R Magni; R Brancato
Journal:  Int Ophthalmol       Date:  1992-11       Impact factor: 2.031

3.  Multimodal fundus imaging in Best vitelliform macular dystrophy.

Authors:  Daniela C Ferrara; Rogério A Costa; Stephen Tsang; Daniela Calucci; Rodrigo Jorge; K Bailey Freund
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2010-04-23       Impact factor: 3.117

Review 4.  [Morbus Best].

Authors:  O Strauss
Journal:  Ophthalmologe       Date:  2005-02       Impact factor: 1.059

5.  An unusual presentation of Best's disease.

Authors:  R C Fletcher; L M Jampol; W Rimm
Journal:  Br J Ophthalmol       Date:  1977-11       Impact factor: 4.638

Review 6.  Genetic modifiers as relevant biological variables of eye disorders.

Authors:  Kacie J Meyer; Michael G Anderson
Journal:  Hum Mol Genet       Date:  2017-08-01       Impact factor: 6.150

7.  Atypical vitelliform macular dystrophy in a 5-generation family.

Authors:  H M Hittner; R E Ferrell; R P Borda; J Justice
Journal:  Br J Ophthalmol       Date:  1984-03       Impact factor: 4.638

Review 8.  [Function of bestrophin].

Authors:  O Strauss; R Rosenthal
Journal:  Ophthalmologe       Date:  2005-02       Impact factor: 1.059

9.  Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.

Authors:  Sancy Low; Alice E Davidson; Graham E Holder; Chris R Hogg; Shomi S Bhattacharya; Graeme C Black; Paul J Foster; Andrew R Webster
Journal:  Mol Vis       Date:  2011-08-23       Impact factor: 2.367

  9 in total

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