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

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

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.

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Expression and Localization of Bestrophin during Normal Mouse Development
Bakall et al.
IOVS 2003;44:3622-3628.
ABSTRACT | FULL TEXT  

Bilateral Multifocal Chorioretinopathy in a Woman With Cutaneous Malignant Melanoma
Palmowski et al.
Arch Ophthalmol 2002;120:1756-1761.
FULL TEXT  

Bestrophin Interacts Physically and Functionally with Protein Phosphatase 2A
Marmorstein et al.
J. Biol. Chem. 2002;277:30591-30597.
ABSTRACT | FULL TEXT  

Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium
Marmorstein et al.
Proc. Natl. Acad. Sci. USA 2000;97:12758-12763.
ABSTRACT | FULL TEXT