Retinitis Pigmentosa is an inherited eye disease leading to death of the rod photoreceptors and subsequent death of the the cones due to oxidative damage, resulting in blindeness. Several mutations, particularly in the gene coding for rhodopsin, have been found to cause Retinitis Pigmentosa. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder..
Retinitis Pigmentosa is usually diagnosed at a young age as a teen or a young adult..
The result of mutations in the rhodopsin gene, affects between 16% to 35% of the Western population who suffer will from adRP (autosomal dominant Retinitis Pigmentosa).
- Night Blindness
- Tunnel Vision
- Aversion to glare
- Blurred Vision
- Loss of central vision (in more serious case)
Although no effective treatments to cure the disease have been discovered, a number of studies have inferred that treating a patient with antioxidants such as sizeable doses of Retinyl palmitate (vitamin A palmitate) will slow down the progress of the disease. There are compllications to this treatment, retinyl palmitate can cause serious damage to a patients liver, so treatment benefits have to be weighed against the risks.
- ↑ http://www.ncbi.nlm.nih.gov/protein/4506527
- ↑ http://www.webmd.com/eye-health/retinitis-types-symptoms-treatment
- ↑ Lee SY, Usui S, Zafar AB, Oveson BC, Jo YJ, Lu L, Masoudi S, Campochiaro PA., Nov 10, 2010, fckLRN-acetylcysteine promotes long term survival of cones in a model of retinitis pigmentosa, retrieved from: http://www.ncbi.nlm.nih.gov/pubmed/21069814
- ↑ Beryozkin A, Levy G, Blumenfeld A, Meyer S, Namburi P, Morad Y, Gradstein L, Swaroop A, Banin E, Sharon D. (2016) Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual. Israel, Abstract, page 1