Article
The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.
Investigative ophthalmology & visual science - 1 Nov 2016
Simunovic Matthew P, Jolly Jasleen K, Xue Kanmin, Edwards Thomas L, Groppe Markus, Downes Susan M, MacLaren Robert E
Abstract excerpt
PURPOSE: We report the underlying genotype and explore possible genotypic-phenotypic correlations in a large cohort of choroideremia patients. METHODS: We studied prospectively a cohort of 79 patients diagnosed within a tertiary referral service for patients with retinal dystrophies. Phenotypic evaluation consisted of clinical examination, including visual acuity and residual retinal area by fundus...
Topics
- Adaptor Proteins, Signal Transducing
- Adolescent
- Adult
- Aged
- Child
- Choroideremia
- DNA
- DNA Mutational Analysis
- Female
- Fluorescein Angiography
- Follow-Up Studies
- Fundus Oculi
- Genotype
- Humans