Purpose of review: This article reports recent advances in the diagnosis, genetic analysis, and treatment of hereditary retinal disease.
Recent findings: Clinicians and scientists continue to reveal the relationship between phenotype and genotype in hereditary retinal diseases. Persistent investigation and progressive technology are advancing the efficiency of mutation discovery. This technology is also leading to readily available genetic testing that aids clinicians in the diagnosis of these diseases. Functional genetic studies, and laboratory and human clinical trials are occurring that may lead to future treatment of these disorders.
Summary: A literature review of the recent discoveries and potential treatments for retinitis pigmentosa, Leber's congenital amaurosis, X-linked retinoschisis, Best's disease, Stargardt's disease, and congenital stationary night blindness is presented, along with a guide for clinicians seeking genetic testing of patients.