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Retinitis pigmentosa 44

Retinitis Pigmentosa Type 44


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]
  • Acronym RP44 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • […] care through the transfer of NGS to real-world patient assessment Promotes a practical tool that clinicians can apply directly to patient care Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases Presents[books.google.com]
Fear
  • Fear of being left on their own, fear of rejection by people or partner and fear of having accidents were often reported. 'Probably being left on my own would be the biggest fear.'[nature.com]
  • After some time passed and I was not driving simply because I was busy, it became I was not driving out of fear of my own and my parents.[pawsitivelyblind.com]
  • Blindness, fear of sight loss, and suicide. Psychosomatics. 1999;40:339–44. pmid:10402881 View Article PubMed/NCBI Google Scholar 14. Waern M, Rubenowitz E, Runeson B, Skoog I, Wilhelmson K, Allebeck P.[journals.plos.org]
Denial
  • We did not know too terribly much at the time and I was likely in some sort of denial. I went out with a male driver one evening to do one of the in car sessions and he was an absolutely jerk.[pawsitivelyblind.com]

Treatment

  • 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]
  • Stargardt Disease Treatment — Patient from USA — FIRATLI CLINIC (new video) Retinal Dystrophy Diseases Treatments via Dr.FIRATLI Method with Electro-Acupuncture Retinitis Pigmenosa Treatment – November 2017 – New Video.[retinitispigmentosacure.com]

Prognosis

  • PMID: 25670491 Prognosis Colombo L, Montesano G, Sala B, Patelli F, Maltese P, Abeshi A, Bertelli M, Rossetti L BMC Ophthalmol 2018 Jun 26;18(1):153. doi: 10.1186/s12886-018-0817-z.[ncbi.nlm.nih.gov]
  • Prognosis The disease evolves progressively, in some cases leading to a total loss of walking ability and vision after 10 to 30 years of progression. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • 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]
  • According to some studies, individuals with adRP have the best prognosis, with the majority of those younger than age 30 years having a visual acuity of 20/30 or better.[institut-vision.org]

Etiology

  • Attenuation of retinal blood vessels MedGen UID: 480605 • Concept ID: C3278975 • Finding Rod-cone dystrophy MedGen UID: 892740 • Concept ID: C4072872 • Disease or Syndrome Etiology BMC Ophthalmol 2018 Jun 26;18(1):153. doi: 10.1186/s12886-018-0817-z.[ncbi.nlm.nih.gov]
  • Etiology The disease is associated with degeneration of the posterior column of the spinal cord. The causative gene, FLVCR1 (1q32.3), has been identified and localized to the AXPC1 locus (1q32-q31).[orpha.net]
  • […] changes, and refractive accommodative esotropia). 4 This report expands the phenotypic spectrum of recessive NR2E3 mutation and illustrates how examination of relatives can be useful in establishing a diagnosis for hereditary eye disease of unclear etiology[jamanetwork.com]
  • Etiology, pathogenesis, and experimental treatment of retinitis pigmentosa. Med Hypotheses. 2000;54(5):814–24. View Article PubMed Google Scholar Cox SN, Hay E, Bird AC. Treatment of chronic macular edema with acetazolamide.[bmcophthalmol.biomedcentral.com]

Epidemiology

  • Summary Epidemiology Around 20 cases have been described in the last 50 years. Clinical description Onset of symptoms usually occurs in childhood.[orpha.net]
  • 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]
  • Puech B, Kostrubiece B'Hache Jc, Francois P.J. epidemiology and prevalence of hereditary retinal dystrophies in the Norther France Fr Ophthalmology 14:153-63, 1991. 6. Grondahl J. Tapetoretinal degeneration in four Norwegian countries II. Clin.[ijo.in]
  • Haim M Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl 2002;2331- 34 PubMed Google Scholar 11. Bowne SJSullivan LSMortimer SE et al.[jamanetwork.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.de]
  • 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.it]
  • […] pigment cells in the vitreous, posterior vitreous detachment and associated vitreous hemorrhage. 31-34 Most patients with retinitis pigmentosa are myopic although high hyperopia has been reported. 34-36 There is also a correlation with keratoconus. 37 The pathophysiology[reviewofoptometry.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 fundamental advances in recent years have identified a number of genes involved in the groups of diseases which hopefully will lead to discoveries that may, in the not too distant future, allow the prevention and possible cure of some of these blinding[books.google.de]
  • A macaque model will provide insights into pathologic mechanisms for retinitis pigmentosa, and may be better suited than mice for testing new treatments that could reduce or prevent inherited blindness.[iovs.arvojournals.org]
  • Education about the disease is necessary to enhance early presentation, prevent avoidable blindness, and enhance rehabilitation.[dovepress.com]

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