Genetics of hereditary vitreoretinal degenerations

The hereditary vitreoretinal disorders have variable vitreoretinal and other ocular and skeletal abnormalities. Some of these conditions represent a spectrum of clinical disease. This, along with the phenotypic variability, often leads to diagnostic difficulties. In this context, genetic testing is of valuable diagnostic value. Molecular genetic studies have helped distinguish conditions that were previously grouped together and proven others to represent spectrum of the same clinical entity. Accurate diagnosis is important in order to offer effective screening and genetic counseling and appropriate ophthalmological as well as systemic clinical surveillance.