Article
Genetics in Retinal Diseases.
Developments in ophthalmology - 1 Jan 2016
Riaz Moeen, Baird Paul N
Abstract excerpt
The phenotypic presentation of retinal diseases is typically underpinned by the presence of genetic variation represented by either polymorphic changes, mutations, copy number variations or epigenetic changes. Retinal dystrophies can broadly be divided into two forms, either monogenic (single-gene) or complex (multifactorial) diseases. Recent advances in molecular techniques such as genome-wide association...
Topics
- DNA Copy Number Variations
- Genetic Therapy
- Genome-Wide Association Study
- Humans
- Phenotype
- Retinal Diseases