Retinitis Pigmentosa by Abby Birch

What is the gene that the mutation occurs in to cause this disease?

This is the RP2 gene. When this gene is mutated it causes Retinitis Pigmentosa also known as color blindness.

What protein is produced by the gene?

This protein is called XRP2. It is the protein that is produced by the gene RP2.

How and when was the disease first discovered/documented?

  • Retinitis Pigmentosa was first diagnosed by Doctor Franciscus Donders
  • It was first documented in a medical journal in 1855

What is the incidence rate of the disease in the US? In the world?

Incident Rate for US: This disease affects more that 100,000 Americans (not exact rate found)

Incident Rate for World: 1 in 4,000 people

Are any specific populations of people affected more than others?

There are no specific populations the inherit Retinitis Pigmentosa more than others.

What are the symptoms?

The symptoms Retinitis Pigmentosa are a loss of color perception, central vision, and night blindness

How is the disease diagnosed?

Retinitis Pigmentosa is diagnosed two different ways. It can be diagnosed with a comprehensive eye exam or an ophthalmologist will dilate the eyes to look at the beck of them for signs of the disease

How is the disease treated?

There are a variety of treatments for Retinitis Pigmentosa. This disease can be treated with gene therapy, an FDA approved drug which is moving into clinical trial, LCA treatment, dietary supplements, and the QLT clinical trial

What is the prognosis for a patient diagnosed with the disease?

The disorder will continue to progress, although it is slow. Complete lost of vision is uncommon but not impossible.

What is the genetic pattern of inheritance?

This disease is sex-linked which means it could be passed down from generation to generation.

What current research is being conducted on the disease or its treatments?

Some drugs are being developed to help stop the symptoms of this disease and a type of googles are being created for the people affected to see color

Citations

American Academy of Ophthalmology. "Retinitis Pigmentosa Diagnosis." American Academy of Ophthalmology, 14 Apr. 2015, www.aao.org/salud-ocular/consejos/retinitis-pigmentosa-diagnosis. Accessed 5 Feb. 2017.

Willacy, Hayley, Dr. "Retinitis Pigmentosa." Edited by Colin Tidy, Dr. Retinitis Pigmentosa, Patient, patient.info/doctor/retinitis-pigmentosa.Accessed 23 Jan. 2014.

Baylor College of Medicine. "Improving the view on the genetic causes of retinitis pigmentosa." Medical Press, 17 Jan. 2017, medicalxpress.com/news/2017-01-view-genetic-retinitis-pigmentosa.html. Accessed 17 Jan. 2017.

U.S. National Library of Medicine. "RP2 Gene." Genetics Home Reference, U.S. National Library of Medicine, 31 Jan. 2017, ghr.nlm.nih.gov/gene/RP2. Accessed 31 Jan. 2017.

Wenberg, John. "The History of Retinitis Pigmentosa." The History of Retinitis

Wenberg, John. "The History of Retinitis Pigmentosa." The History of Retinitis Wenberg, John. "The History of Retinitis Pigmentosa." The History of Retinitis Pigmentosa, www.jwen.com/rp/articles/hist.html. Accessed 12 Mar. 2000.

RDR Staff. "Retinitis Pigmentosa Drug and Goggles Treatment in Development."Retinitis Pigmentosa Drug and Goggles Treatment in Development, Rare DR,31 Jan. 2017, www.raredr.com/news/

retinitis-pigmentosa-drug-and-goggles-treatment-in-development.

EnChroma. "Glasses for the Color Bold." EnChroma, 2012, enchroma.com/.

Protein Data Bank in Europe. "Protein XRP2." Protein Data Bank in Europe,EMBL-EBI, www.ebi.ac.uk/pdbe/entry/pdb/2bx6/protein/1.

Foundation Fighting Blindness. "Retinitis Pigmentosa." Kami,chrome-extension://ecnphlgnajanjnkcmbpancdjoidceilk/content/web/viewer.htmlfile=http%3A%2F%2Fwww.blindness.org%2Fsites%2Fdefault%2Ffiles%2Fpages%2Fpdfs%2FMedia%2Fadvances_rp_jan_2013.pdf.

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