x-linked retinitis pigmentosa Suan cho

Retinitis Pigmentosa

  • Retinitis pigmentosa (RP) is a group of inherited disorders which gives progressive peripheral vision loss and night vision difficulties (nyctalopia) that can lead to vision loss
  • 1 in 4,000 people in the United States gets the effect of retinitis pigmentosa. Approximately, worldwide prevalence is 1 in 5000 people
  • PR2: the gene that the mutation occurs in to cause x-linked retinitis pigmentosa
  • retinitis pigmentosa GTPase regulator (RPGR): protein that is produced by the gene from PR2
  • genetic pattern of inheritance: x-linked
  • in most cases, x-linked retinitis pigmentosa is affected to male
  • the name retinitis pigmentosa was first applied by doctor Donders in 1857 and he described it as an inflammatoru disorder and causes night blindness and pigmentaru deposits in the retinae

SYMTPOMS

As the diseases progresses, lose their periphery vision witch is tunnel vision. Patients often lose vision of ring in their periphery. Also night blindness called Nyctalopia happens and it is the most commonly earliest symptom.

The first picture is the normal vision. The second picture shows vision with retinitis pigmentosa

DIAGNOSE

You can If you have poor night vision, a loss of side vision or a history of retinitis pigmentosa, you can doubt retinitis pigmentosa. Ophthalmologist may use an electroretinogram to diagnose it. This will measure how retinal cells respond to flashes of light and the result will show if the cells are responding properly.

This is the picture of an electroretinogram. It is where electrodes are painlessly placed on the the clear front window of the eye(cornea) and around the eye and tell whether a patient have a retinitis pigmentosa or not.

CURE

There is no cure for retinitis pigmentosa. But there are some ways that can slow down the processes such as light avoidance and the use of low-vision aids. Also some researchers also say Vitamin as a possible treatment option to slow down it.

PROGNOSIS

Because there is no known treatment yet, the disorder will continue to process, So patients will rarely get completed blindness and their visual will be slowly declined.

CURRENT RESEARCH

Research is being conducted about gene therapy research, transplant research, and retinal prosthesis. The goal of these research is to discover the way that healthy genes can be inserted into the retina. Attempts at transplanting healthy retinal cells into sick retinas are being made experimentally but have not yet been considered as safe and successful.

WORK CITES

  • the first picture

Telander, David. "Retinitis Pigmentosa" Medscape, 17 February 2015

<http://emedicine.medscape.com/article/1227488-overview#a4>

  • the second pirture

Magruder,Brock. "RETINITIS PIGMENTOSA" Magruder Eye Institude.

<http://www.magrudereye.com/site/retinitis-pigmentosa.htm>

  • the third picture

"Retinitis Pigmentosa Diagnosis" AMERICAN ACADEMY OF OPHTHALMOLOGY, 14 April 2015

https://www.aao.org/eye-health/diseases/retinitis-pigmentosa-diagnosis

  • website resources

"Learning About Retinitis Pigmentosa" National Human Genome Research Institute, 27 December 2013

<https://www.genome.gov/13514348/learning-about-retinitis-pigmentosa/learning-about-retinitis-pigmentosa/>

"Genetics Home Reference" U.S. NATIONAL LIBRARY OF MEDICINE. 31 January 2017

<https://ghr.nlm.nih.gov/condition/retinitis-pigmentosa#diagnosis>

Telander, David. "Retinitis Pigmentosa" Medscape, 17 February 2015

<http://emedicine.medscape.com/article/1227488-overview#a6>

"Retinitis Pigmentosa Diagnosis", 14 April. 2015, www.aao.org/eye-health/diseases/retinitis-pigmentosa-diagnosis. Accessed 5 Feb.2017

"Retinitis Pigmentosa Diagnosis" AMERICAN ACADEMY OF OPHTHALMOLOGY, 14 April 2015

https://www.aao.org/salud-ocular/consejos/retinitis-pigmentosa-diagnosis

Chen, Yuh-Fang, et al. "Retinitis Pigmentosa Reduces the Risk of Proliferative Diabetic Retinopathy: A Nationwide Population-Based Cohort Study." PLOS, 28 Sept. 2012

http://journals.plos.org/plosone/article?id=10.1371/ journal.pone.0045189

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