Article
Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
Investigative ophthalmology & visual science - 1 Nov 1998
Jacobson S G, Cideciyan A V, Huang Y, Hanna D B, Freund C L, Affatigato L M, Carr R E, Zack D J, Stone E M, McInnes R R
Abstract excerpt
PURPOSE: To define the phenotypes of retinal degenerations associated with mutations in the gene encoding CRX (cone-rod homeobox), a photoreceptor-specific transcription factor. METHODS: Heterozygotes with the E168 [delta1 bp], E168 [delta2 bp], or G217 [delta1 bp] CRXgene mutation were studied c...
Topics
- Adult
- Child
- Electroretinography
- Female
- Homeodomain Proteins
- Humans
- Middle Aged
- Mutation
- Pedigree
- Phenotype
- Photoreceptor Cells, Vertebrate
- Psychophysics
- Retinal Degeneration
- Tomography
- Trans-Activators
- Visual Acuity
- Visual Field Tests
- Visual Fields