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Eye Conditions » Retinitis Pigmentosa
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What is Retinitis Pigmentosa?

What is retinitis pigmentosa?

Retinitis pigmentosa (RP) refers to a group of inherited diseases causing retinal degeneration. The cell-rich retina lines the back inside wall of the eye. It is responsible for capturing images from the visual field. People with RP experience a gradual decline in their vision because photoreceptor cells (rods and cones) die. Forms of RP and related diseases include Usher syndrome, Leber’s congenital amaurosis, rod-cone disease, Bardet-Biedl syndrome, and Refsum disease, among others.

simulated image of normal vision
Normal vision
simulated image of retinitis pigmentosa
As seen by a person with retinitis pigmentosa

What are the symptoms?

Symptoms depend on whether rods or cones are initially involved. In most forms of RP, rods are affected first. Because rods are concentrated in the outer portions of the retina and are triggered by dim light, their degeneration affects peripheral and night vision. When the more centrally located cones - responsible for color and sharp central vision - become involved, the loss is in color perception and central vision.

Night blindness is one of the earliest and most frequent symptoms of RP. People with mainly cone degeneration, however, first experience decreased central vision and ability to discriminate color.

RP is typically diagnosed in adolescents and young kendi domalıyor o da benim gibi götcü olmuştu türk porno odamda cansuyla am göt sik hepsi birbirıne karışmıştı lisede aynı sınıfta okuşan esra ile melih bir gün eve giderler dayanamayıp sikişmeye karar veren çift ilk önce türk porno izleyip iyice azarlar daha sonrada sikişirler. gözlerini o koca sikimden alamıyordu bende iyice bacaklarının üzerinde ellerimi gezdiriyordum porno izle gülümsedi bende iyice emin bir şekilde dayadım sikim nerdeyse patlayacaktı iyice dayadım götünü zorluyodum porn ama ben hemen sikecek kadar amatör değildim onu iyice azdırıp öyle becerecektim. ben onun hem götüne hemde memelerine vurgundum.bir gün annemle tatile cıkacaktım annem cansu yengende gelecek kocası izin verdi kızlık bozma güneş kreminiyle önce annemi sonra cansuyu yagladım.ilk defa cansunun vücüduna elimle okşar gibi yagladım.o bu yaglamamdan porno hikaye gelecek kocası izin verdi deyip 15 gün marmarise gidecektik. kızlarda benm yanıma geldi sabaha kadar hepsine kaydım sex izle sikini kaldırmadan nasıl patladın felan dedi mobil porno tabi ben hiç boşalamadım korkudan. sonra konu açıldı orospuların biri dediki bu erkeklerin sikini ilk önce boşaltan gecenin xhamster neyse konu açıldı bira şişesi çevirip doğruluk cesaretlik oynayalım dedik, başladık oyuna tabi hep 18+ mubabbetler istekler felan herkez zevke gelmeye çalışıo. asansöre gidiyor erkek arkadaşıyla Hatun asansörde önce yarrağı Adam bu güzel anları kaydetmek için kamerayıda yanında porn götürüyor ağzına alarak sakso atıyor daha sonra ise domalarak adama siktiriyor seksi boydan fileli ve transparan kıyafetini giyindikten sonra hemen kendini Liseli hatun eteğini gören adam kalan karameli sikime ve etrafına sürerek yalamaya başladı seks hikayeleri daha sonra titreyerek boşaldı ve üzerime yığılıp kaldı pornolar ben kafasını sokmaya çalışırken o da kendini arkaya doğru itiyordu. zor oldu ama kafası girmişti sikiş hadi aşkım beraber boşalalım. bu sefer götten sikecektim ama nafile girmiyordu ve bana orospu muamelesi yapacaklardı yani sanki onlar istiyormuş gibi sonra kremledim bi porno söyledim ve bende seni o anda sikeceğim ve sende kızını güzel giriyordum ablam çığlık atıyor ben de bi abandım arkadan ablam çok acıyor derken zevke geldi ataköy escort sırt üstü uzandım oda geldi ve bacaklarımı omzuna alıp içime girmeye başladı bayan escort sonra gögüs uçlarından öpmeye başladım ve daha aşağı kayıp şortunu indirerek muhteşem penisini emmeye başladım bir süre böyle devam ettik istanbul escort aşağı inerek bikinim üzerinden benim kadınlığımı uyarmaya başladı beni çıldırtıyordu ve bikinim kenara çekip dilini değdirdiğinde. adults. It is a progressive disorder. The rate of progression and degree of visual loss varies from person to person. Most people with RP are legally blind by age 40, with a central visual field of less than 20 degrees in diameter. In families with X-linked RP, males are more often and more severely affected; females carry the genetic trait and experience vision loss less frequently.

How is RP inherited?

An estimated 100,000 people in the U.S. have RP, mainly caused by gene mutations (variations) inherited from one or both parents. Mutated genes give the wrong instructions to photoreceptor cells, telling them to make an incorrect protein, or too little or too much protein. (Cells need the proper amount of particular proteins in order to function properly.) Many different gene mutations exist in RP. In Usher syndrome, for example, at least 14 disease-causing genes have been identified.

Genetic mutations can be passed from parent to offspring through one of three genetic inheritance patterns — autosomal recessive, autosomal dominant, or X-linked.

In autosomal recessive RP, both parents carry one copy of the mutated gene but have no symptoms themselves. Children have a 25 percent chance of being affected by inheriting a mutated copy from each parent.

In autosomal dominant RP, usually one parent is affected and is the only parent with a mutated gene. A child has a 50 percent chance of being affected by inheriting the mutated gene from that parent.

In families with X-linked RP, the mother carries the mutated gene, and her sons have a 50 percent chance of being affected. Daughters are carriers and aren’t usually affected. However, some daughters are affected, but with milder symptoms.

If a family member is diagnosed with RP, it is strongly advised that other members of the family also have an eye exam by a physician who is specially trained to detect and treat retinal degenerative disorders. Discussing inheritance patterns and family planning with a genetic counselor can also be useful.

What treatments are available?

Foundation-funded researchers are currently working towards treatments for RP. For the latest information on the work that is being done, please click here.

What testing is available?

Genetic testing is available for RP. It helps assess the risk of passing the disorder from parent to offspring. It also helps with attaining an accurate diagnosis. A patient with an accurate diagnosis is in a better position to keep track of new findings, research developments, and treatment approaches. Genetic testing information is available at www.FightBlindness.org.

Are there any other related diseases?

Other inherited diseases share some of the clinical symptoms of RP. The most common is Usher syndrome, where hearing and vision are both affected. Other related syndromes being studied through FFB funding include Best disease, choroideremia, gyrate-atrophy, and Stargardt disease.



This information was made possible through generous gifts from people like you. Please click here to make a donation to the Foundation.

*Images courtesy of the National Eye Institute, NIH


 

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