Presentation
The disease usually is present as an isolated eye disease but syndromal forms also occur in which there is a similar disease of the retina in association with other problems elsewhere in the body. [disorders.eyes.arizona.edu]
Rod cells are present throughout the retina, except for at the very centre where they help with night vision. Cone cells are also present throughout the retina but are concentrated in the central region known as the macula. [fightingblindness.ie]
IDRs present a high clinical and genetic heterogeneity, with more than 260 associated genes described up to now. [dialnet.unirioja.es]
In autosomal dominant RP, the disease is present in males or females only when a single copy of the gene is defective. Typically, one of the parents is affected by the disease. [genome.gov]
The following individuals are candidates for retinitis pigmentosa testing: - Individuals with a family history of retinitis pigmentosa and presentation of the most common symptoms, including night blindness and loss of visual acuity Individuals without [centogene.com]
Entire Body System
- Disability
[…] is mostly due to the loss of central vision, 24, 32, 33 whereas in RP the visual disability is due to the loss of both the peripheral and the central vision. [nature.com]
AR 94.8 11 of 12 SPEF2 Primary Ciliary Dyskinesia AR 99.6 10 of 13 SRD5A3 Congenital Disorder Of Glycosylation, Kahrizi Syndrome AR 100 15 of 15 STK36 Primary Ciliary Dyskinesia 100 5 of 5 TELO2 You-Hoover-Fong Syndrome, Telo2- related Intellectual Disability [igenomix.es]
- Pallor
All of them showed waxen pallor in the optic disc and 92% showed arteriolar attenuation. [go.gale.com]
[…] diagnostic tool 1, 13 Fundus appearance: the earliest observed changes in the fundus are arteriolar narrowing, fine dust-like intraretinal pigmentation, and loss of pigment from the pigment epithelium Moderate to severe retinal vessel attenuation and waxy pallor [centogene.com]
- Asymptomatic
[…] the promoter of PRPF31 in these families, proposed as the main modulator of the penetrance in this gene, showed that there must be a polygenic control of the gene penetrance that allows to explain the cases carrying variants in this gene that remain asymptomatic [dialnet.unirioja.es]
Cardiovascular
- Hypertension
Night blindness, congenital stationary, type 1G,616389 GNAT2Achromatopsia-4,613856 GNB3Night blindness, congenital stationary, type 1H,617024 GNB3{Hypertension, essential, susceptibility to},145500 GNPTGMucolipidosis III gamma,252605 GPR143Nystagmus 6 [qgenomics.com]
Eyes
- Visual Impairment
It typically starts at the early teenage years and progresses to severe visual impairment during the 4th and the 5th decade. [nature.com]
Jenny wants to spread awareness of what having a visual impairment really means to her and others affected by retinal degenerative diseases. [fightingblindness.org]
- Visual Impairment
It typically starts at the early teenage years and progresses to severe visual impairment during the 4th and the 5th decade. [nature.com]
Jenny wants to spread awareness of what having a visual impairment really means to her and others affected by retinal degenerative diseases. [fightingblindness.org]
Treatment
What can I expect my treatment to include? Before treatment begins, we have a comprehensive discussion with you about your options, and we perform a vision exam. [restorevisionclinic.com]
This is a one-time treatment delivered by a specially-trained surgeon who administers the treatment by a sub-retinal injection. [fightingblindness.ie]
Gene Therapy Center OHSU Casey Eye Institute is a premiere center in the U.S. for gene therapy research, clinical trials and treatment options. Learn more about the Gene Therapy Center. [ohsu.edu]
Many research groups are working to develop treatments and cures for RP. [fightingblindness.ca]
Prognosis
Diagnosis and Prognosis: The diagnosis is usually made by an ophthalmologist based on the patient’s history, the appearance of the eye, and the results of a test known as an ERG (electroretinogram). [disorders.eyes.arizona.edu]
Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin Genet 1987; 31 (4): 255–264. 6. Ferrari S, Di Iorio E, Barbaro V, Ponzin D, Sorrentino FS, Parmeggiani F. [nature.com]
Prevention
If these therapies are successful they might prevent a person who is treated when first diagnosed, from ever developing vision loss. [fightingblindness.ca]
At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]