Article
Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.
Clinical & experimental ophthalmology - 1 Jul 2020
Nishiguchi Koji M, Kunikata Hiroshi, Fujita Kosuke, Hashimoto Kazuki, Koyanagi Yoshito, Akiyama Masato, Ikeda Yasuhiro, Momozawa Yukihide, Sonoda Koh-Hei, Murakami Akira, Wada Yuko, Nakazawa Toru
Abstract excerpt
IMPORTANCE: A framework for understanding the phenotypic features of CRX retinopathy was established. BACKGROUND: To perform a phenotype-genotype correlation analysis in two groups of patients with heterozygous mutations in distinct locations of the CRX gene, encoding the cone-rod homeobox. DESIGN: Multicentre retrospective study. PARTICIPANTS: Twenty-one Japanese patients from 14 families with a heterozygous CRX...
Topics
- Electroretinography
- Genotype
- Homeodomain Proteins
- Humans
- Mutation
- Pedigree
- Phenotype
- Retinal Degeneration
- Retrospective Studies
- Trans-Activators