Hereditary retinal disease.
OBJECTIVE
This article reports recent advances in the diagnosis, genetic analysis, and treatment of hereditary retinal disease.


RESULTS
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.


CONCLUSIONS
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.
Goodwin
Peter
P
Philadelphia Retina Endowment Fund Fellow, Philadelphia, Pennsylvania 19105, USA. petergoodwin@verizon.net
D003937:Diagnosis, Differential; D003941:Diagnostic Techniques, Ophthalmological; D005821:Genetic Techniques; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D010641:Phenotype; D011379:Prognosis; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics*