Retinitis Pigmentosa By Skylar Rodgers

Retinitis Pigmentosa is a disease that causes progressive vision loss. This vision loss is due to the deterioration of light-sensing cells in the eyes' retina, which is the sensitive tissue lining the back of the eyes.
The RP2 (Retinitis Pigmentosa 2) gene that causes this disease also produces a protein called XRP2.

Incidence rate in the US and worldwide is roughly 1 in 4,000

Inheritance from mother to child
  • 1 in 4 chance the child will have the disorter
  • 1 in 2 chance the child will be a carrier
  • 1 in 4 chance the child will not have the disorder or be a carrier
More common in boys and young men
Considered rare

Symptoms

  • Loss of night vision (apparent in childhood)
  • Blind spots or loss in peripheral vision

Diagnosis?

There is an examination of the retina to reveal abnormal, dark pigment deposits that streak the retina.

Prognosis?

Could result in Usher Syndrome

Usher Syndrome is characterized as the combination of hearing loss and loss of vision early in life

Genetic pattern of inheritance?

This is an X-linked recessive pattern of inheritance

"I had a good social life I had friends and thought I knew where I was going. All of a sudden this hit me I didn’t know where I stood in the world – the solid ground I thought I had had gone. I fell between two worlds – the sighted world and the blind world – and didn’t know where I fitted in.” -Joan Kearns

Current research and treatments

Leber congenital amaurosis has improved vision for people with this disease, stem cells are said to be making promise in the lab. Treatments such as canine or guard dogs have helped tremendously by keeping the patients happy and safe.

Works Cited

Blast. US National Library of Medicine, 2017, blast.ncbi.nlm.nih.gov/Blast.cgi. Accessed 3 Feb. 2017.

"Facts about Retinitis Pigmentosa." NEI, National Eye Institute, May 2014, nei.nih.gov/health/pigmentosa/pigmentosa_facts. Accessed 3 Feb. 2017.

"Meet Joan Kearns." Fighting Blindness, www.fightingblindness.ie/support/personal-stories/joan/. Accessed 3 Feb. 2017.

"Retinitis Pigmentosa." National Human Genome Research Institute, USA.gov, 2 Feb. 2017, www.genome.gov/10000475/current-news-releases/. Accessed 3 Feb. 2017.

"Retinitis Pigmentosa." Pubmed, National library of medicine, 2017, www.pubmed.com/. Accessed 3 Feb. 2017.

"X-Linked Retinitis Pigmentosa." AGTC, 2017, www.agtc.com/products/x-linked-retinitis-pigmentosa. Accessed 3 Feb. 2017.

Credits:

Created with images by Anemone123 - "blindfolded blind hair" • Giuliamar - "eye eyelashes face" • skeeze - "world earth planet"

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