Retinitis Pigmentosa

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Retinitis Pigmentosa is a rare inherited eye disease leading to the death of the rod photoreceptors and subsequent death of the cones due to oxidative damage, resulting in blindness. 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[1].

Retinitis Pigmentosa is an eye disease leading to the death of the rod photoreceptors and subsequent death of the cones due to oxidative damage, resulting in blindness. Several mutations have been found to cause Retinitis Pigmentosa; one of which is a mutation in the RHO gene of chromosome 3q22.

Retinitis pigmentosa is a disease that involves the break down of retina cells in the eye caused by a mutation in the RHO gene located on chromosome 3q22[2]. It can lead to loss of peripheral vision and weakened night vision[3].

Treatment methods include: the suppression and replacement of the gene or using zinc finger transcription factors[4].

It has recently been concluded that N-acetylcysteine might help prevents cone death in the retina[5][6].

Retinitis Pigmentosa is usually diagnosed at a young age as a teen or a young adult.[7].

It has recently been concluded that N-acetylcysteine might help prevents cone death in the retina[8].

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)[9].

Symptoms:

Treatment

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 complications to this treatment, retinyl palmitate can cause serious damage to a patient's liver, so treatment benefits have to be weighed against the risks.

References

  1. http://www.ncbi.nlm.nih.gov/protein/4506527
  2. http://omim.org/entry/613731 cited 19/10/17
  3. https://nei.nih.gov/health/pigmentosa/pigmentosa_facts cited 19/10/17
  4. Farrar G.J., Millington-Ward S., Palfi A., Chadderton N., Kenna P.F. (2015) Gene Therapy for Dominantly Inherited Retinal Degeneration. In: Rakoczy E. (eds) Gene- and Cell-Based Treatment Strategies for the Eye. Essentials in Ophthalmology. Springer, Berlin, Heidelberg
  5. Lee SY, Usui S, Zafar AB, Oveson BC, Jo YJ, Lu L, Masoudi S, Campochiaro PA., Nov 10, 2010, N-acetylcysteine promotes long-term survival of cones in a model of retinitis pigmentosa, found at: http://www.ncbi.nlm.nih.gov/pubmed/21069814
  6. http://omim.org/entry/613731
  7. http://www.webmd.com/eye-health/retinitis-types-symptoms-treatment
  8. Lee SY, Usui S, Zafar AB, Oveson BC, Jo YJ, Lu L, Masoudi S, Campochiaro PA., Nov 10, 2010, Acetylcysteine promotes long-term survival of cones in a model of retinitis pigmentosa, retrieved from: http://www.ncbi.nlm.nih.gov/pubmed/21069814
  9. 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
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