Article
A novel CACNA1F gene mutation causes Aland Island eye disease.
Investigative ophthalmology & visual science - 1 Jun 2007
Jalkanen Reetta, Bech-Hansen N Torben, Tobias Rose, Sankila Eeva-Marja, Mäntyjärvi Maija, Forsius Henrik, de la Chapelle Albert, Alitalo Tiina
Abstract excerpt
PURPOSE: Aland Island eye disease (AIED), also known as Forsius-Eriksson syndrome, is an X-linked recessive retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect, progressive myopia, and defective dark adaptation. Electroretinography reveals abnormalities in both photopic and scotopic functions. The gene locus for...
Topics
- Calcium Channels, L-Type
- DNA Mutational Analysis
- Exons
- Female
- Genetic Diseases, X-Linked
- Humans
- Introns
- Male
- Mutation
- Night Blindness
- Pedigree