Article
Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.
American journal of ophthalmology - 1 Aug 2012
Bitner Hanna, Schatz Patrik, Mizrahi-Meissonnier Liliana, Sharon Dror, Rosenberg Thomas
Abstract excerpt
PURPOSE: To estimate the prevalence, genotype, and clinical spectrum of Best vitelliform macular dystrophy (Best disease). DESIGN: Retrospective epidemiologic and clinical and molecular genetic observational study. METHODS: setting: National referral center. participants: Forty-five individuals diagnosed with Best disease. observation procedures: Retrospective review of patients diagnosed according to clinical...
Topics
- Adult
- Age of Onset
- Aged
- Bestrophins
- Child
- Chloride Channels
- DNA Mutational Analysis
- Denmark
- Electroretinography
- Eye Proteins
- Female
- Fluorescein Angiography
- Gene Frequency
- Genotype