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Retinitis Pigmentosa 30

RP30


Presentation

  • Abstract This case report depicts the clinical course of a female patient with unilateral retinitis pigmentosa (RP), who presented first in 1984 at the age of 43 years.[ncbi.nlm.nih.gov]
  • Presents a more streamlined format to the printed text to help you focus on the clinically actionable information you need everyday.[books.google.es]
  • RESULTS: Data are presented for 338 eyes from 169 patients. CME was present in 58.6% of patients and 50.9% of ...[medworm.com]
  • Ophthalmology , University of Erlangen-Nuremberg, Erlangen , Germany Correspondence to Dr Julia M Weller, julia.weller{at}uk-erlangen.de Summary This case report depicts the clinical course of a female patient with unilateral retinitis pigmentosa (RP), who presented[casereports.bmj.com]
Xerostomia
  • MeiraGTx is also establishing treatments for xerostomia, a frequent and debilitating side effect of radiation treatment used in head and neck cancers, as well as certain neurodegenerative diseases.[prnewswire.com]
Anterior Uveitis
  • The most common of uveitis in current study was anterior uveitis (56.2%), followed by intermediate uveitis (43.8%). Cataract developed in 12 (37.5%) eyes, and three eyes had raised intraocular pressure.[tandfonline.com]
Heterochromia Iridis
  • Grisanti S, Diestelhorst M, Lebek J, Walter P, Heimann K (1998) Unilateral pigmentary degeneration of the retina associated with heterochromia iridis. Graefes Arch Clin Exp Ophthalmol 236:940–944 CrossRef PubMed Google Scholar 38.[link.springer.com]

Workup

  • FFA, ICG Cancer workup Antibodies to recoverin, α-enolase, transducin-α, and carbonic anhydrase II VF visual field, VA visual acuity, PSC posterior subcapsular cataract, AF autofluorescence, ONL outer nuclear layer, FFA fundus fluorescein angiography,[retinalphysician.com]
Treponema Pallidum
  • The differential diagnosis includes the following so-called phenocopies, that is, retinal disorders mimicking RP: Ocular infections: syphilis, rubella Congenital infections with rubella virus or treponema pallidum can lead to retinal changes with pigment[ncbi.nlm.nih.gov]
Toxoplasma Gondii
  • gondii expressed in the yeast Schizosaccharomyces pombe. ( 17728194 ) Rolland D...Dantigny P 2008 4 Examination of antisense RNA and oligodeoxynucleotides as potential inhibitors of avian leukosis virus replication in RP30 cells. ( 9733130 ) Kim KE..[malacards.org]
Neurofibrillary Tangle
  • Página 54 - Laminar and regional distributions of neurofibrillary tangles and neuritic plaques in Alzheimer's disease: a quantitative study of visual and auditory cortices. J Neurosci 1987;7:1799-1808. ‎[books.google.es]

Treatment

  • The Diabetic Retinopathy Study Research Group: Photocoagulation treatment of proliferative diabetic retinopathy: The second report of Diabetic Retinopathy Study findings. ‎[books.google.es]
  • Food and Drug Administration (FDA) has granted orphan drug designation (ODD) to the Company’s product candidate GS030 for the treatment of retinitis pigmentosa.[businesswire.com]
  • 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]
  • Currently, there are no effective treatments for this disease.[prnewswire.com]

Prognosis

  • 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]
  • What is the prognosis for retinitis pigmentosa? The prognosis is poor since there is no cure for the disease. However, there are researchers working hard on this disease.[medicinenet.com]
  • A concentric narrowing to the central 5 as in RP is not typical for infectious retinopathies; the prognosis is better than in RP.[ncbi.nlm.nih.gov]
  • There is no prognosis. "Every case is different," they tell you, "that much we know. There might be a cure one day, it's hard to say." Deterioration is the only guarantee.[vice.com]

Etiology

  • Coexistence of these disorders might support the inflammatory pathway in etiology of RP.[tandfonline.com]
  • Etiology and Pathophysiology Mutations in the rhodopsin gene account for 30% of cases of autosomal dominant RP. Another 4–6% of autosomal dominant RP is caused by a mutation in the gene for a photoreceptor protein peripherin/RDS.[unboundmedicine.com]
  • Hispanic people account for approximately 17% of the United States population, and the genetic etiologies of RP of this ethnic group still remain not well defined.[nature.com]

Epidemiology

  • Klein BEK, Moss SE, et al: The Wisconsin Epidemiologic Study of Diabetic Retinopathy, II: prevalence and risk of diabetic retinopathy when age at diagnosis is less than 30 years. ‎[books.google.es]
  • 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]
  • Characterized by poor night vision, constricted visual fields, bone spicule-like pigmentation of the fundus, and electroretinographic evidence of photoreceptor cell dysfunction System(s) affected: nervous Synonym(s): rod-cone dystrophy; retinal dystrophy Epidemiology[unboundmedicine.com]
  • Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Design of prospective meta-analyses of genome-wide association studies from 5 cohorts . Circ. Cardiovasc.[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • To better understand the pathophysiology of XLRP and how to reverse it in specific patients, a team of University of Iowa investigators modeled RPGR -associated XLRP by using patient-specific pluripotent stem cells (iPSCs) generated from dermal fibroblasts[mdmag.com]
  • Etiology and Pathophysiology Mutations in the rhodopsin gene account for 30% of cases of autosomal dominant RP. Another 4–6% of autosomal dominant RP is caused by a mutation in the gene for a photoreceptor protein peripherin/RDS.[unboundmedicine.com]
  • Thus, CT assessment, as a clue to changes in choroidal vasculature or damage to choriocapillaris, may aid in a better understanding of the pathophysiology of RP.[jeos.eg.net]
  • These studies suggest that the two types or groups may represent different pathophysiologic subtypes of RP.[entokey.com]

Prevention

  • The FDA grants orphan drug designation status to provide incentives to develop medicinal products to treat, prevent or diagnose diseases or conditions that affect no more than 200,000 persons in the United States.[businesswire.com]
  • Robertson Young Investigator Award, and Research to Prevent Blindness. The author has no proprietary interest. 2001 by Ophthalmic Communications Society, Inc.[journals.lww.com]
  • The visual field area showed a trend for prevention of visual field loss in the 200% group. A significant improvement of light-adapted single flash b-wave was noted for the 200% and 150% groups, according to researchers.[healio.com]
  • Prevention Once RP has been inherited there are no known ways to prevent the disorder from occurring. If you have RP or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.[cancercarewny.com]

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