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Retinitis pigmentosa 40


Presentation

  • Presents a more streamlined format to the printed text to help you focus on the clinically actionable information you need everyday.[books.google.de]
  • Abstract Analysis of genetic heterogeneity in 40 kindreds with X-linked retinitis pigmentosa (XLRP), with 20 polymorphic markers, showed that significant heterogeneity is present (P .001) and that 56% of kindreds are of RP3 type and that 26% are of RP2[ncbi.nlm.nih.gov]
  • Acronym RP40 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • 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.de]
Inflammation
  • Contains thorough content updates in every area of retina, including advanced imaging technologies, gene therapy, inflammation and immune responses, white dot syndromes, epigenetic mechanisms, transplantation frontiers to improve retinal function, macular[books.google.de]
  • Conclusions Patients with RP are prone to develop chronic, low grade inflammation responses similar to the ones present in FHI.[journalretinavitreous.biomedcentral.com]
  • Conditions Mimicking RP With Diagnostic Findings RP Congenital Rubella Old Infection, eg, Syphilis, Lyme Inflammation Autoimmune Retinopathy Drug toxicity Symptoms Nyctalopia Peripheral VF disturbance Usually incidental findings Blurring of vision Blurring[retinalphysician.com]
Pain
  • Intellectual Disability Internal Organs and Endocrinology Metabolic and Mitochondrial Disorders Multiple Malformations/ Anomalies Syndromes Neurologic Disorders Neuromuscular Disorders Reproductive and Infertility Genetics Sensory Disorders (Eye, Ear, Pain[preventiongenetics.com]
  • Please take a history and examine this 40 year old man with visual loss HISTORY (3 mins) Since when Sudden/gradual Painful or painless 1 or both eyes Is it getting worse Blurring vs distortion vs bits missing (bumping into things) vs double vision If[medicaleducationleeds.com]
  • None of the tests are painful but they can take a long time and be repetitive. You may be asked to have some or all of the following tests: Examination of the back of the eye An examination of the retina is always carried out.[mdfoundation.com.au]
Weakness
  • […] beta-tocopherol transport protein deficiency), characterized by ataxia, dysarthria, reduced touch, and reduced position sense; and gyrate atrophy (ornithine aminotransferase deficiency), which has no systemic abnormalities, except for mild proximal muscle weakness[retinalphysician.com]
Night Blindness
  • Research, Rehab Help Those with RP The earliest symptom of retinitis pigmentosa, sometimes noticed in childhood, is night blindness or difficulty with night vision.[nweyes.com]
  • The earliest symptom of retinitis pigmentosa, usually noticed in childhood, is night blindness or difficulty with night vision. People with normal vision adjust to the dark quickly, but people with night blindness adjust very slowly or not at all.[bostonlaser.com]
  • Retinitis pigmentosa (RP) is the name given to a group of retinal diseases that are characterized by loss of peripheral (side) vision, and frequently by difficulty seeing in dimly lighted areas (night blindness).[uclahealth.org]
  • blindness, autosomal dominant 3; Night blindness, congenital stationary, type 1g GNAT2 Achromatopsia 4 GNPTG Mucolipidosis III gamma GPR143 Ocular albinism, type I; Nystagmus 6, congenital, X-linked GPR179 Congenital stationary night blindness, type[asperbio.com]
  • In the progression of symptoms for RP, night blindness generally precedes tunnel vision by years or even decades. Many people with RP do not become legally blind until their 40s or 50s and retain some sight all their life.[checkorphan.org]
Strabismus
  • The absence of nystagmus, strabismus or photophobia along with an older age of presentation and slower rate of progression made a diagnosis of Leber’s congenital amaurosis less likely, progressive CRD can have a very similar clinical presentation with[journalretinavitreous.biomedcentral.com]
Blister
  • After the vitrectomy, a small volume of fluid containing the AAV gene therapy vector is injected underneath the retina through a very fine needle that is narrower than a human hair, creating a small fluid-filled blister or bleb under the retina.[ndcn.ox.ac.uk]
Ataxia
  • […] in stool, RP, ataxia Alpha-tocopherol transport protein deficiency: RP, ataxia, and vitamin E deficiency.[medicaleducationleeds.com]
  • Further Reading Retinitis Pigmentosa Symptoms Retinitis Pigmentosa Diagnosis Retinitis Pigmentosa Genetics Retinitis Pigmentosa Cause Neuropathy, Ataxia and Retinitis Pigmentosa (NARP Syndrome)[news-medical.net]
  • Gene Condition ABCA4 Stargardt disease 1; Cone-rod dystrophy 3 ABCB6 Microphthalmia, isolated, with coloboma 7 ABCC6 Pseudoxanthoma elasticum ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract ACBD5 Cone-rod dystrophy ADAM9[asperbio.com]
  • Other diseases that mimic RP include: Friedreich’s ataxia, trauma to the eye, oxalosis. Glaucoma, End-stage Choroquine or thioridazine or syphilis related neuroretinitis and cancer related reinopathy. There is no known cure for RP.[globalgenes.org]
  • […] disease (phytanic acid oxidase deficiency), characterized by ataxia, polyneuropathy, deafness, anosmia, and dry skin; familial isolated vitamin E deficiency (beta-tocopherol transport protein deficiency), characterized by ataxia, dysarthria, reduced touch[retinalphysician.com]
Nystagmus
  • In the "centro-peripheral" type of R.P. (17% of cases), onset is around 6-15 years of age, there is no nystagmus, and both central and peripheral vision is affected.[tsbvi.edu]
  • The absence of nystagmus, strabismus or photophobia along with an older age of presentation and slower rate of progression made a diagnosis of Leber’s congenital amaurosis less likely, progressive CRD can have a very similar clinical presentation with[journalretinavitreous.biomedcentral.com]
  • […] autosomal recessive GJA3 Zonular pulverulent cataract 3 GNAT1 Congenital stationary night blindness, autosomal dominant 3; Night blindness, congenital stationary, type 1g GNAT2 Achromatopsia 4 GNPTG Mucolipidosis III gamma GPR143 Ocular albinism, type I; Nystagmus[asperbio.com]
  • The age of onset and the progression of the disease were variable among families and additional findings such as photophobia, myopia, cataracts, dischromatopsia and nystagmus were found in 45% of cases.[nature.com]
Headache
  • It would have made the transitions less of a headache. I am now 26 years old. I am a huge family person. I am very active within my community. I am a full-time VR Counselor for the State of Texas and absolutely love my job.[themighty.com]
  • Diabetic retinopathy: Diabetes, glucose control, BP, eye checks ON: headache, colour vision, blurred centre Drugs: amiodarone, ethambutol, isoniazid, hydroxychoroquine, steroids, sildenafil, tetracyclines RP: poor night vision, ask about impaired dark[medicaleducationleeds.com]
  • Excessive doses may cause nausea, vomiting, headache, blurred vision, dizziness, liver problems, and clumsiness. It may also increase a person's risk of developing osteoporosis. Vitamin A appears safe in pregnant women if taken at recommended doses.[columbiaeye.org]
Learning Difficulties
  • difficulties, renal cysts, sleep apnoea, polydactyly Senior-Loken Syndrome- RP, kidney disease Abetalipoproteinaemia: failure to thrive, poor growth, fat and blood in stool, RP, ataxia Alpha-tocopherol transport protein deficiency: RP, ataxia, and vitamin[medicaleducationleeds.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]

Treatment

  • Helps you make optimal use of the newest drug therapies, including Anti-VEGF treatment for wet ARMD and bevacizumab treatment for complications of diabetes.[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]
  • 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.de]

Prognosis

  • 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]
  • 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]
  • Currently, there is no therapy that stops the evolution of the disease or restores the vision, so the visual prognosis is poor.[hal.archives-ouvertes.fr]
  • Prognosis - Retinitis pigmentosa Treatment - Retinitis pigmentosa Resources - Retinitis pigmentosa Not supplied.[checkorphan.org]

Etiology

  • Prevention The characterization of mutations in genes already involved in RP and thus the etiology based on DNA analysis, is, at present, a high cost and laborious task.[barraquer.com]
  • 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]
  • 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]
  • FHI etiology remains unknown, and even though several mechanisms have been proposed as triggers of the characteristic inflammatory reaction [ 4 ], all of them have failed to explain the tendency to be unilateral in 90% of all cases.[journalretinavitreous.biomedcentral.com]
  • These spectrums (heritage trait and sex) are not significantly different from those in previous reports of Japanese RP etiology 10 using the χ 2 test.[jamanetwork.com]

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]
  • 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]
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.de]
  • Pathophysiology and symptoms of Retinitis pigmentosa In Retinitis pigmentosa there are initial vision problems especially in dim light. This manifests as a loss of vision around the peripheries. This is known as tunnel vision.[news-medical.net]
  • 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]
  • 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

  • Prevention Because RP is a genetic disorder, there is no way to prevent it. There is no proven way to prevent or delay the associated vision loss. Treatment There is no known treatment for RP.[drugs.com]
  • As hereditary defects are discovered through research, it may be possible to develop treatment to prevent the progression of retinitis pigmentosa. Patients with retinitis pigmentosa may develop other treatable disorders.[retinaldiagnostic.com]
  • Research to Prevent Blindness   Resources  RPB Vision Resources The term retinitis pigmentosa (RP) refers to a group of hereditary diseases, all of which eventually result in severe vision loss.[rpbusa.org]
  • Prevention - Retinitis pigmentosa Not supplied. Diagnosis - Retinitis pigmentosa The diagnosis of retinitis pigmentosa relies upon documentation of progressive loss in photoreceptor function by electroretinography (ERG) and visual field testing.[checkorphan.org]

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