Presentation
Just under the rear camera module, a fingerprint sensor is present to enhance the security as well as the convenience of the users. [91mobiles.com]
After a brief introduction to the clinical anatomy of the peripheral retina, the appearance of the fundus as a function of skin color and aging is presented. [books.google.com]
Older patients had higher rates of blindness at presentation ( P =0.005); blindness and visual impairment rate at presentation were higher in males than females ( P =0.029). [dovepress.com]
Acronym RP41 Synonyms Retinal degeneration autosomal recessive prominin-related Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
Gastrointestinal
- Hiccup
Asus’ choice to go with a clean, stock-like UI also helps with that as the phone did not display any hiccups even when I pushed the phone to its limits. The ZenFone Max Pro dropped a few frames here and there while playing PUBG at max settings. [firstpost.com]
Eyes
- Peripheral Vision Loss
Retinitis pigmentosa (RP) is a group of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties (nyctalopia) that can lead to central vision loss. [juliettefoundation.org]
Entry H00527 Disease Name Retinitis pigmentosa Description Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. [genome.jp]
Retinitis pigmentosa is the most common subtype of hereditary retinal dystrophy and is characterized by a progressive loss of peripheral field vision (Tunnel Vision), eventual loss of central vision, and progressive night blindness. [journalretinavitreous.biomedcentral.com]
- Photopsia
[…] y) 6/6–6/6 (39 y) 6/7.5–6/7.5 (50 y) 6/12–6/15 (58 y) BEM (50 y) Macular atrophy OS (58 y) OD (62 y) Peripheral pigment (55 y) Attenuated arteries (58 y) ( Fig 3 ) NP Undetectable rod and cone responses (55 y) NP OD 60° OS 50° (58 y) NP CIII:1 F 58 Photopsia [iovs.arvojournals.org]
The classical symptoms of RP include nyctalopia (night blindness), peripheral visual loss and in advanced cases central visual loss and photopsia (seeing flashes of light). [nature.com]
- Aniridia
[…] autosomal dominant OPN1MW Colorblindness, partial, deutan series; Cone monochromatism OTX2 Microphthalmia syndromic 5 PANK2 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration PAX2 Renal coloboma syndrome PAX6 Aniridia [asperbio.com]
Treatment
Treatment Treatment Options: No specific treatment is available but physical therapy and low vision aids may improve the quality of life. [disorders.eyes.arizona.edu]
Please let me knoe is there any treatment for RP. My father is ready for genetic trials also for any developing treatment methods. [timroot.com]
Now I have under treatment a lady of 60, who for five years has been terribly tormented by the pains of herpes. [books.google.com]
Cone rescue in retinitis pigmentosa by the treatment of Lycium barbarum (Random Clinical Trial). Ann Eye Sci 2017;2:AB002. doi: 10.21037/aes.2017.AB002 [aes.amegroups.com]
Voretigene neparvovec is not only the first approved treatment for retinitis pigmentosa, but is the first approved gene therapy for the eye. [online.epocrates.com]
Prognosis
A hereditary component is present in half of cases of retinitis pigmentosa and the prognosis, as well as its progression, may be related with this inheritance. [barcelonamaculafound.org]
PMID 30061208 Expression of CD133 protein in osteosarcoma and its relationship with the clinicopathological features and prognosis. Xie Y, et al. J Cancer Res Ther, 2018. [ncbi.nlm.nih.gov]
Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin Genet. 1987 Apr;31(4):255-64. Hata H, Yonezawa M, Nakanishi T, Ri T, Yanashima K. [medresearch.in]
Prognosis Except for mild cases or sectorial RP, most cases progress to legal blindness (visual acuity < 1/20 and visual field < 5 degrees). The documents contained in this web site are presented for information purposes only. [orpha.net]
Etiology
Many of the diseases of the peripheral retina can be divided into trophic (nutritional), tractional, and a combination of trophic plus tractional etiologies. [books.google.com]
Etiology More than 3,000 mutations in over 57 different genes or loci are currently known to cause non-syndromic RP. [orpha.net]
Hence, careful diagnosis and detailed family studies are very important in determining the etiology of RP in a family. This in turn helps to provide accurate genetic counselling. [ijo.in]
Epidemiology
Summary Epidemiology Prevalence of RP is reported to be 1/3,000 to 1/5,000. No ethnic specificities have been reported although founder effects are possible. Clinical description Retinitis pigmentosa is slowly progressive but relentless. [orpha.net]
Isolated cases, with no family history, also commonly occur Epidemiology Prevalence in all ages is approximately 1 in 4,000 [ 1 ]. Three types have been found determined by age of onset. [patient.info]
Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland. J Neurol Sci. 1965;2:183–96. CrossRef PubMed Google Scholar 6. Haim M. Epidemiology of retinitis pigmentosa in Denmark. [link.springer.com]
The results of our review can serve as a platform for formulating RP-centred health policies and in encouraging the involved countries towards maintaining an epidemiological register. [jpma.org.pk]
Pathophysiology
The photoreceptor-specific effects of these mutations are perplexing and the pathophysiological mechanisms are unclear. [bio.brandeis.edu]
Pathophysiology RP is typically thought of as a rod-cone dystrophy in which the genetic defects cause cell death (apoptosis), predominantly in the rod photoreceptors; less commonly, the genetic defects affect the RPE and cone photoreceptors. [juliettefoundation.org]
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620-7. Radtke ND, Aramant RB, Seiler MJ, Petry HM, Pidwell D. [rarediseases.org]
Prevention
A.S. is recipient of a Research to Prevent Blindness Lew R. Wasserman Merit Award. top References 1) Fujita R, Swaroop A: RPGR: Part one of the X-linked retinitis pigmentosa story. Mol Vis. 1996;2:4. [djo.harvard.edu]
[…] investigator observations and placebo effect in the design of clinical trials, as well as the critical analysis of data and responsible promotion of any potential treatment. [36] Neuroprotection The goal of neuroprotection is to deliver factors that prevent [online.epocrates.com]
Consanguinity: Perinatal Outcomes and Prevention - A View from the Middle East. 2008;9:e59-e65. 13. Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, et al. [jpma.org.pk]
(1) Loss of two negatively and addition of nine positively charged residues alters the charge of the carboxyl terminus, possibly affecting the structure and function of rhodopsin. (2) Loss of all six phosphorylatable residues at the C-terminus may prevent [bjo.bmj.com]
Prevention Some assessment of the risk of having an affected child may be made by genetic counselling. There may be a future role for gene therapy [ 16 ] . [patient.info]