Edit concept Question Editor Create issue ticket

Retinitis Pigmentosa 7


Presentation

  • WHO-ICD-10 version:2010 Diseases of the eye and adnexa Disorders of choroid and retina Mode of Inheritance Autosomal recessive Autosomal dominant Gene Map Locus Leber congenital amaurosis 18 (LCA18) is an inherited retinal dystrophy that presents with[cags.org.ae]
  • […] vision night vision laboratory night vision testing nighttime noise normal objects observer ocular oculomotor oculomotor control optic flow Optical Society orientation Owens patients Perceive layout peripheral vision photopic Physiology pilot predict presented[books.google.com]
  • The mutation was not present in 100 healthy individuals. Fig. 1. Pedigree of F103. Parents are first-degree cousins. Index case is individual II:1, depicted by solid square.[academic.oup.com]
  • […] novel dry electrode EEG cap for evoked potential and bandpower activity detection 510 Development of a shoetype device for collecting gait information 514 Optical measurements for guidance during deep brain stimulation surgery 516 Trial Study of a Power Presentation[books.google.de]
Hypersomnia
  • These items include: 1) anhedonia, 2) depressed mood, 3) insomnia or hypersomnia, 4) fatigue or loss of energy, 5) appetite disturbances, 6) guilt or worthlessness, 7) diminished ability to think or concentrate, 8) psychomotor agitation or retardation[omicsonline.org]
Movement Disorder
  • 388 Aspects of WeightSupport Mechanisms in Rehabilitation Robotics 392 Studying Mechanisms Underlying Stroke Induced Movement Disorders Using 3D Robotics 395 Use of Artificial Neural Networks for Classification Intracraneal EEG Signals from Epileptic[books.google.de]
Thrombosis
  • […] diseases among South Asians in the United Kingdom 179 Management of inherited metabolic diseases in India 205 Indian childhood cirrhosis and other metabolic liver diseases 221 Thalassaemias and other haemoglobinopathies 243 Disorders of haemostasis and thrombosis[books.google.com]
Hysteria
  • They noted that they suffered from eight mental disorders, including obsessive compulsive disorder (39.3%), schizophrenia (38.1%), antisocial personality (37.6%), paranoia (36.7%), hypochondrias (35.3%), depression (31.2%), hysteria (26.9%), and hypomania[omicsonline.org]
Anhedonia
  • These items include: 1) anhedonia, 2) depressed mood, 3) insomnia or hypersomnia, 4) fatigue or loss of energy, 5) appetite disturbances, 6) guilt or worthlessness, 7) diminished ability to think or concentrate, 8) psychomotor agitation or retardation[omicsonline.org]
Excitement
  • She’s seen how excited Salvina is to go to school every day and pictured her teaching a classroom full of children. Watched her… Read More January 26th, 2016 by FFB Canada Dr.[ffb.ca]
  • In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future.[books.google.de]
Agitation
  • These items include: 1) anhedonia, 2) depressed mood, 3) insomnia or hypersomnia, 4) fatigue or loss of energy, 5) appetite disturbances, 6) guilt or worthlessness, 7) diminished ability to think or concentrate, 8) psychomotor agitation or retardation[omicsonline.org]
Pendular Nystagmus
  • He had left exotropia of less than 20 prism dioptres and pendular nystagmus. His elder brother had decreased vision since early childhood. He had moderate left exotropia and pendular nystagmus.[cags.org.ae]
Perseveration
  • Julie and Lowell are an enthusiastic and dynamic couple who persevere through obstacles every day. Lowell suffers from Retinitis Pigmentosa (RP) and is legally blind. He has no peripheral vision, reduced central vision, and no vision in low light.[ffb.ca]
Forgetful
  • February 19, 2011 is a day that I will never forget. As I patiently waited in my new optometrist’s waiting room, I hoped that my vision hadn’t changed.[ffb.ca]

Workup

HLA-A2
  • Structure of the human class I histocompatibility antigen, HLA-A2. ‏ الصفحة 438 - Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. ‏[books.google.com]

Treatment

  • It is possible if she has a genetic defect for which there is a current treatment being studied, she may be able to be enrolled in a clinical trial.[retinagallery.com]
  • Do you want to learn how to access emerging treatments? Do you want to discover your best vision care pathway? If you answered yes, then Vision Quest 2016 is for you![ffb.ca]
  • HORAMA S.A. is in the process of developing two phase I/II, and one Pre-Clinical therapeutics for the treatment of retinitis pigmentosa.[gii.co.jp]
  • There is no substantial treatment for LCA. Care is supportive. Parents should be referred to programs for the visually impaired child within their state or locality. Correction of refractive error in the affected individuals is beneficial.[cags.org.ae]
  • As this disease progresses slowly, it is easy to ignore some of the symptoms at first, but earlier treatment of any disease is always a good idea.[retinitispigmentosatreatment.com]

Prognosis

  • Prognosis The disorder will continue to progress, although slowly. Complete loss of vision is uncommon. Prevention Some assessment of the risk of having an affected child may be made by genetic counselling.[patient.info]
  • PMID: 27906070 Free PMC Article Prognosis Kurata K, Hosono K, Hotta Y Doc Ophthalmol 2018 Aug;137(1):47-56. Epub 2018 Jul 19 doi: 10.1007/s10633-018-9649-7.[ncbi.nlm.nih.gov]

Etiology

  • 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]
  • PMID: 26666451 Free PMC Article Etiology Kurata K, Hosono K, Hotta Y Doc Ophthalmol 2018 Aug;137(1):47-56. Epub 2018 Jul 19 doi: 10.1007/s10633-018-9649-7.[ncbi.nlm.nih.gov]
  • [IF:1.425] Sawada M, Hikoya A, Negishi T, Hotta Y, Sato M : Characteristics and surgical outcomes of consecutive exotropia of different etiologies. Jpn J Ophthalmol 59: 335-340, 2015.[hama-med-ganka.jp]

Epidemiology

  • Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease[books.google.de]
  • 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]
  • Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl. 2002;(233):1-34. 3. Boughman JA. Population genetic studies of retinitis pigmentosa. Am J Hum Genet. 1980;32(2):223-235. 4. Berson EL, Rosner B, Sandberg MA, et al.[ndnr.com]
  • Our finding experimentally that 1 in 4–5 individuals from the general world population could be a carrier of mutations linked to hereditary blindness confirms and extends previous theoretical estimates on HRD genetic epidemiology [11].[journals.plos.org]
Sex distribution
Age distribution

Pathophysiology

  • 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

  • Read the news items from the Huffpost Marijuana May Prevent Blindness In Retinitis Pigmentosa Sufferers The Huffington Post Posted: 02/21/2014 Access the full article on ScienceDirect Neuroprotective effects of the cannabinoid agonist HU210 on retinal[journals.elsevier.com]
  • Foundation Fighting Blindness homepage The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa, age-related macular degeneration,[blindness.org]
  • 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]
  • Becuase it is an inherited disease, research into genetics may one day provide a prevention or cure for those who have RP.[eyehealthconsultants.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!