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Retinitis Pigmentosa 23

RP23


Presentation

  • Acronym RP23 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • The most characteristic abnormality of this genotype was a slowed rod branch of dark adaptation, which was present regardless of the extent or severity of disease.[ncbi.nlm.nih.gov]
  • Presently, there is limited information on the mechanism(s) that detect and degrade rhodopsin.[surface.syr.edu]
  • Here, we present a spacer-mediated allele-specific knockout approach that utilizes both SpCas9 variants and truncated single guide RNAs (tru-sgRNAs) to achieve efficient discrimination of a single-nucleotide mutation in rhodopsin (Rho)-P23H mice, a model[biorxiv.org]
Short Stature
  • Short stature, renal dysfunction, and polydactyly are some signs of Bardet-Biedl syndrome or Laurence-Moon syndrome when associated with pigmentary retinopathy.[patient.info]
  • stature, Cognitive impairment, High palate, Distal arthrogryposis, not provided, Retinal dystrophy, Anxiety, Brisk reflexesDysautonomia, Abnormality of the upper limb, Multiple joint contractures, Dislocated radial head, Abnormality of upper limb joint[ncbi.nlm.nih.gov]
Blurred Vision
  • vision Impaired vision Dry eyes Night blindness Tinnitus Headache Nervousness Insomnia with much dreaming Dry throat Thirst Five sole heat (palms, soles and center of chest) Night sweats Light or late menses or Amenorrhea T: Red C: Little P: Thready,[americandragon.com]
Colorblindness
  • Rod monochromacy, a form of colorblindness due to absent or nonfunctional cone photoreceptors, can be caused by mutations in the cone cGMP-gated cation channel.[ommbid.mhmedical.com]
Retinal Damage
  • Summary of Muller Glia and the Research (1) Muller glia have the potential to be a retina-intrinsic source of neuronal regeneration. (2) Muller glia can be stimulated by retinal damage or FGF2/MAPK signaling to become proliferating progenitor cells that[brainscape.com]
Anxiety Disorder
  • disorder Ush2a Autoimmune Diseases Rbp3 autosomal dominant nonsyndromic deafness 11 Myo7a autosomal recessive nonsyndromic deafness Cdh23 autosomal recessive nonsyndromic deafness 12 Cdh23 autosomal recessive nonsyndromic deafness 18A Ush1c autosomal[rgd.mcw.edu]
Nystagmus
  • […] submitters, no conflicts GRCh37: Chr15:72103821 GRCh38: Chr15:71811481 NR2E3 Enhanced s-cone syndrome, Retinitis pigmentosa 37, Cone-rod dystrophy, not specified, Visual impairment, not provided, Retinal dystrophy, Abnormality of color vision, Horizontal nystagmus[ncbi.nlm.nih.gov]
  • Pcdh15 Cognitive Dysfunction Ush2a Colorectal Neoplasms Abca4 Combined Saposin Deficiency Cdh23 cone dystrophy Abca4 , Guca1b , Prph2 cone-rod dystrophy Abca4 , Guca1b , Prph2 , Rpe65 , Ush2a cone-rod dystrophy 2 Crx cone-rod dystrophy 3 Abca4 congenital nystagmus[rgd.mcw.edu]
Polyneuropathy
  • LOC110120596 , LOC110120597 , LOC111242786 , LOC111365193 , LOC111365226 , LOC111556151 See casesPathogenic (Aug 12, 2011) criteria provided, single submitter GRCh37: ChrMT:8993 GRCh38: ChrMT:8993 MT-ATP6 Leigh syndrome, Mitochondrial diseases, Ataxia and polyneuropathy[ncbi.nlm.nih.gov]
  • Retinitis Pigmentosa Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ABCA4 Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Retinal dystrophy, early-onset severe, Fundus flavimaculatus AR 308 1231 ABHD12 Polyneuropathy[blueprintgenetics.com]

Treatment

  • Make optimal use of the newest drug therapies , including Anti-VEGF treatment for wet ARMD and bevacizumab treatment for complications of diabetes.[books.google.com]
  • The molecular mechanism of P23H rhodopsin autosomal dominant retinitis pigmentosa (adRP) is still not clear, and currently there is no effective treatment for this retinal degenerative disease.[grantome.com]
  • Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice.[books.google.de]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]

Prognosis

  • Prognosis • AR has favorable prognosis, retention of central vision until 5th -6th decade. • AD best prognosis, retention of central vision beyond 6th decade • XL worst prognosis with severe visual loss by the 4th decade. 27.[slideshare.net]
  • Prognosis The prognosis mainly depends on the progression of the visual loss: blindness occurs in almost all cases between 50 and 70 years of age. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Expectations (prognosis) The disorder will continue to progress, although slowly. Complete blindness is uncommon. Complications Peripheral and central loss of vision will eventually occur.[iloveicare.co.nz]
  • Extensive systemic and ocular evaluations are important and should be combined with genotyping in both familial and nonfamilial cases to determine the diagnosis and prognosis.[disorders.eyes.arizona.edu]
  • The mode of inheritance plays a key role in determining the prognosis of the disease. But in many cases, knowing about the exact genetic mode of inheritance is not possible [11, 13].[article.sapub.org]

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.it]
  • Etiology So far, mutations in five genes ( MYO7A , USH1C , CDH23 , PCDH15 , USH1G ) and one locus ( USH1E ) have been implicated in US type 1.[orpha.net]

Epidemiology

  • Summary Epidemiology Prevalence is estimated at 1/30,000. US is the most common cause of hereditary combined deafness-blindness. Clinical description Onset usually occurs during childhood.[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]
  • Clinics, epidemiology and genetics of retinitis pigmentosa. Curr Genomics. 2011;2:236–237. 4. Buch H, Vinding T, La Cour M, et al.[dovepress.com]
  • ., 2002, Epidemiology of retinitis pigmentosa in Denmark. Acta. Ophthalmol. Scan.[article.sapub.org]
Sex distribution
Age distribution

Pathophysiology

  • This is the first report in which a type of retinitis pigmentosa has been associated with a specific molecular gene defect, although the actual pathophysiologic mechanism currently is unknown.[jamanetwork.com]
  • Offers the most comprehensive content available on retina, balancing the latest scientific research and clinical correlations, covering everything you need to know on retinal diagnosis, treatment, development, structure, function, and pathophysiology.[books.google.com]
  • Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any[books.google.de]
  • This principle of oxidative injury in the context of a G6PD deficiency can be applied to the pathophysiology of RP.[cureus.com]
  • 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

  • The short term goal of this proposed study is to determine the predominant molecular mechanism of P23H rhodopsin- related photoreceptor death, and identify novel therapeutics that prevents this retinopathy.[grantome.com]
  • The results from this study suggest that P23H-rhodopsin RP patients may have a pool of rod photoreceptor cells that are dystrophic but still viable, which could be targeted with therapeutic interventions that slow, prevent or even reverse degeneration[webvision.med.utah.edu]
  • These results also suggest that slow regeneration of P23H rhodopsin could prevent endogenous chromophore-mediated stabilization of rhodopsin in the retina.[ncbi.nlm.nih.gov]
  • Finding new ways to stimulate repair without damaging Inhibition of the FGF-receptor and MAPK signaling prevents the formation of MGPCs in damaged retinas.[brainscape.com]
  • MANF, a naturally-occurring protein that reduces and prevents apoptosis (programmed cell death) in response to injury or disease, was discovered utilizing Amarantus' proprietary PhenoGuard Protein Discovery Engine.[amarantus.com]

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