Inherited Retinal Diseases: Cause and treatment.
As the name implies, the cause of inherited retinal diseases are genetic. There are many inherited retinal diseases that vary widely in severity. Some of these include:
- Bardet-Biedl Syndrome
- Batten Disease
- Best’s Disease (Vitelliform Dystrophy)
- Bietti Crystalline Retinopathy
- Central Areolar Choroidal Dystrophy
- Choroideremia
- Cone and Cone-Rod Dystrophy
- Congenital Achromatopsia
- Congenital Stationary Night Blindness
- Dominant Drusen
- Goldmann-Favre Vitreotapetoretinal Degeneration
- Gyrate Atrophy
- Leber Congenital Amaurosis (see below)
- Pattern Dystrophy
- Peripapillary Choroidal Dystrophy
- Progressive Bifocal Chorioretinal Atrophy
- Refsum Syndrome
- Retinitis Pigmentosa (including Usher Syndrome)
- Sorsby Fundus Dystrophy
- Stargardt’s Disease (Fundus Flavimaculatus)
- Stickler Syndrome
- Wagner Syndrome and Jansen syndrome
- X-linked Juvenile Retinoschisis
Diagnostic methods and treatment regimens vary. Our retina specialists can recognize and treat these disorders with the most modern techniques available.
Leber Congenital amaurosis :
LUXTURNATM (voretigene neparvovec-rzyl) is a prescription gene therapy product used for the treatment of patients with inherited retinal disease due to mutations in both copies of the RPE65 gene, which can only be confirmed through genetic testing. You must also have enough remaining cells in your retina (the thin layer of tissue in the back of your eyes) as determined by your healthcare professional.