Article
The role of molecular genetics in the prenatal diagnosis of retinal dystrophies.
Eye (London, England) - 1 Jan 1995
Evans K, Gregory C Y, Fryer A, Whittaker J, Duvall-Young J, Bird A C, Jay M R, Bhattacharya S S
Abstract excerpt
Inherited retinal dystrophies are important causes of incurable blindness in developed countries. Advances in molecular genetics promise significant improvements in their management. Immediate benefits of present knowledge are presymptomatic and prenatal diagnosis in selected cases. To study the predictive power of these techniques a simulated genetic risk estimation was undertaken in a cone-rod retinal dystrophy...
Topics
- Blindness
- Chromosome Mapping
- Chromosomes, Human, Pair 19
- Female
- Fetal Diseases
- Genetic Markers
- Humans
- Mutation
- Pedigree
- Predictive Value of Tests
- Pregnancy