Article
Ocular findings in a Japanese family with an Arg41Trp mutation of the CRX gene.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Jul 2003
Itabashi Toshitaka, Wada Yuko, Sato Hajime, Kunikata Hiroshi, Kawamura Miyuki, Tamai Makoto
Abstract excerpt
PURPOSE: To characterize the ophthalmological features and clinical course of an autosomal dominant cone-rod dystrophy (CORD2) in a Japanese family with an Arg41Trp mutation in the CRX gene. METHODS: Mutation screening by direct sequencing was performed on 42 patients with cone-rod dystrophy. The clinical features of the patients were characterized by the visual acuity and by the findings of slit-lamp...
Topics
- Adult
- Aged
- Aged, 80 and over
- Arginine
- Asian People
- Base Sequence
- Electroretinography
- Female
- Fluorescein Angiography
- Fundus Oculi
- Genes, Dominant