Article
Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa.
Ophthalmic genetics - 1 Jun 2012
Kim Cinoo, Chung Hum, Yu Hyeong Gon
Abstract excerpt
PURPOSE: To describe early-onset cystoid macular edema (CME) in a family with retinitis pigmentosa (RP) due to the p.P347L in the rhodopsin gene (RHO). METHODS: All affected family members, including a 44-year-old mother and four children in their teens (two daughters, 17 and 15 years old, and two sons, 13 and 11 years old), have a mutation of p.P347L in RHO. Funduscopy, Goldmann perimetry, spectral domain...
Topics
- Adolescent
- Adult
- Child
- DNA Mutational Analysis
- Electroretinography
- Female
- Genotype
- Humans
- Macular Edema
- Male
- Mutation
- Pedigree
- Photoreceptor Cells, Vertebrate
- Polymerase Chain Reaction
- Retinitis Pigmentosa
- Rhodopsin
- Tomography, Optical Coherence
- Visual Acuity