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Retinitis Pigmentosa Type 4

Retinitis Pigmentosa 4


Presentation

  • Presents new pharmacotherapy data and the latest approaches in anti-VEGF therapy for age-related macular degeneration, diabetic retinopathy, and venous occlusive disease.[books.google.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]
  • "There are some treatments that suggest some benefits, but at the present time, it would be most accurate to say there is no standard proven accepted treatment," he said.[abcnews.go.com]
  • Your child may benefit from specialized sunglasses (amber-tinted lenses), use of a brimmed hat while outdoors as well as shutting blinds while indoors if glare is present.[afb.org]
  • Compared to AR forms, the AD forms of the disease tend to be more mild, progress more slowly, and present later in life. Patients present with reduced visual acuity and loss of color vision in late adulthood and progress to legal blindness.[retinalphysician.com]
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]
  • Case A 2-year-old boy of Arab descent presented with anaemia and short stature. His family history was remarkable for consanguineous parents and for a brother who succumbed to an undiagnosed kidney disease at the age of 2 years.[academic.oup.com]
Ulcer
  • Corneal Ulcers 99 Herpetic Eye Diseases 103 Peripheral Ulcerative Keratitis 106 Interstitial Keratitis 110 Corneal Dystrophy 111 Keratoconus 115 Crystalline Keratopathy and Miscellaneous Keratopathies 117 Scleritis 120 Corneal Grafts 122 Basics in Contact[books.google.es]
Grieving
  • There is life beyond vision loss, though it may take much grieving (occurring all over again when vision noticeably deteriorates) and time before the entire family recognizes it.[afb.org]

Workup

Legionella Pneumophila
  • pneumophila: an alternative to using an RP4-based system for gene delivery. ( 7899513 ) Wiater LA...Shuman HA 1994[malacards.org]
Helicobacter Pylori
  • : the conjugative transfer regions of plasmids RP4 and R388 and the cag pathogenicity island of Helicobacter pylori encode structurally and functionally related nucleoside triphosphate hydrolases. ( 10781544 ) Krause S...Lanka E 2000 33 Tn4371: A modular[malacards.org]
Pseudomonas
  • […] rensen SJ...Jensen LE 1998 37 The traE gene of plasmid RP4 encodes a homologue of Escherichia coli DNA topoisomerase III. ( 9235964 ) Li Z...DiGate RJ 1997 38 Group II intron from Pseudomonas alcaligenes NCIB 9867 (P25X): entrapment in plasmid RP4 and[malacards.org]

Treatment

  • Debate Over Treatment Berson says RP is treatable.[abcnews.go.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.es]
  • 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]
  • Are There Treatments for RP? There is currently no cure or standard, proven treatment for RP; however, some ophthalmologists believe that treatment with high doses of Vitamin A can slow the progression of RP.[afb.org]

Prognosis

  • Identifying the inheritance pattern involved can help to determine the prognosis, both for the patient and the rest of his or her family.[retinalphysician.com]
  • The course of the disease process and the long-term prognosis for these two types of patients are different.[link.springer.com]
  • Diagnosis and Prognosis: The disease is usually diagnosed by an ophthalmologist based on the symptoms and the appearance of the retina. An electrical test called an ERG is often used to confirm the diagnosis.[disorders.eyes.arizona.edu]
  • 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]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Compared to studies involving patients from other populations, the same genes appear to be implicated in the etiology of recessive RP in Indonesia, although all mutations that were discovered are novel and as such may be unique for this population.[push-zb.helmholtz-muenchen.de]
  • 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]
  • Baumgartner WA: Etiology, pathogenesis, and experimental treatment of retinitis pigmentosa. Med Hypotheses 2000;54: 814–824.[karger.com]
  • Etiology Causatives genes RP is characterized by enormous genetic heterogeneity. At least 45 different genes and loci have been identified to cause nonsyndromic RP so far.[institut-vision.org]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.es]
  • 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]
  • 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]
  • […] retinitis pigmentosa 2,X-linked,putatively due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death Relevant External Links for RP2 Genetic Association Database (GAD) RP2 Human Genome Epidemiology[genecards.org]
  • Epidemiology Worldwide there are more than five million people suffering from various forms of Retinitis Pigmentosa Cure.[retinitispigmentosacure.com]
Sex distribution
Age distribution

Pathophysiology

  • 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.es]
  • 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]
  • 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]
  • For small to medium-sized lesions, intravitreal anti-VEGF therapy, in combination with PDT, can lead to tumor regression and counteract early PDT-related pathophysiologic alterations. Jideofor K.[retinatoday.com]

Prevention

  • Activity is shut off by phosphorylation under the influence of rhodopsin kinase, the activity of which results in binding of visual arrestin (a.k.a. arrestin-1 and S-antigen), which prevents rhodopsin from interacting with and activating more transducin[neuromics.com]
  • Top 10 Retinal-Research Advances documented by the Foundation Fighting Blindness Retinitis Pigmentosa and Usher’s Syndrome: Understanding the Visual Problems of Retinitis Pigmentosa published in the Vision Enhancement Journal Retinitis Pigmentosa, a Prevent[afb.org]
  • Related Institutes & Services Cole Eye Institute The latest in prevention, diagnostics and treatment options for a wide spectrum of eye conditions - from the routine to the complex.[my.clevelandclinic.org]
  • 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]
  • Genetics Autosomal dominant: 20% Autosomal recessive: 37% X-linked recessive: 4.5% Sporadic: 38.5% Risk Factors Family history General Prevention Genetic counseling No conclusive evidence demonstrates that the amount of light modifies the course of RP[unboundmedicine.com]

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