Retinitis pigmentosa

Hamel, Christian
January 2006
Orphanet Journal of Rare Diseases;2006, Vol. 1, p40
Academic Journal
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the first symptom is night blindness, followed by the progressive loss in the peripheral visual field in daylight, and eventually leading to blindness after several decades. Some extreme cases may have a rapid evolution over two decades or a slow progression that never leads to blindness. In some cases, the clinical presentation is a cone-rod dystrophy, in which the decrease in visual acuity predominates over the visual field loss. RP is usually non syndromic but there are also many syndromic forms, the most frequent being Usher syndrome. To date, 45 causative genes/loci have been identified in non syndromic RP (for the autosomal dominant, autosomal recessive, X-linked, and digenic forms). Clinical diagnosis is based on the presence of night blindness and peripheral visual field defects, lesions in the fundus, hypovolted electroretinogram traces, and progressive worsening of these signs. Molecular diagnosis can be made for some genes, but is not usually performed due to the tremendous genetic heterogeneity of the disease. Genetic counseling is always advised. Currently, there is no therapy that stops the evolution of the disease or restores the vision, so the visual prognosis is poor. The therapeutic approach is restricted to slowing down the degenerative process by sunlight protection and vitaminotherapy, treating the complications (cataract and macular edema), and helping patients to cope with the social and psychological impact of blindness. However, new therapeutic strategies are emerging from intensive research (gene therapy, neuroprotection, retinal prosthesis).


Related Articles

  • Lutein supplementation in retinitis pigmentosa: PC-based vision assessment in a randomized double-masked placebo-controlled clinical trial [NCT00029289]. Bahrami, Hossein; Melia, Michele; Dagnelie, Gislin // BMC Ophthalmology;2006, Vol. 6, p23 

    Background: There is no generally accepted medical or surgical treatment to stop the progressive course of retinitis pigmentosa. Previous studies have suggested lutein as a potential treatment with positive effects on macular pigment density. The objective of this study was to examine the effect...

  • The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Roepman, Ronald // Human Molecular Genetics;Sep2000, Vol. 9 Issue 14, p2095 

    Examines the molecular pathogenesis of retinitis pigmentosa type 3 (RP3), a degenerative retinal dystrophy. Identification of retinal proteins that interact with the RCC1-homologous domain of RP GTPase regulator (RPGR); Expression profile of RPGR-interacting protein 1 isoforms; Interaction of...

  • Retinitis Pigmentosa.  // Encyclopedic Reference of Molecular Pharmacology;2004, p815 

    An encyclopedia entry for the term "retinitis pigmentosa," which refers to a group of diseases which cause slow but progressive loss of vision, is presented.

  • Retinitis Pigmentosa. Suresh Babu, M.; Venkatesh, C. R.; Kiran, P. K.; Kumar, S. Sunil; Reddy, K. Prabhath Kiran // British Journal of Medical Practitioners;Sep2015, Vol. 8 Issue 3, p33 

    The article provides an answer to a question of bilateral inherited progressive retinal degeneration disease called retinitis pigmentosa (RP).

  • Retina Implant Aims to Help Blind See. Halber, Deborah // Government Technology;Feb2004, Vol. 17 Issue 2, p16 

    Reports on the eye implant being developed by the Massachusetts Institute of Technology in Cambridge and the Harvard Medical School researchers that can restore vision in patients with retinitis pigmentosa and age-related macular degeneration. Description of how the researchers implanted the...

  • Tomographic comparison of cone-rod and rod-cone retinal dystrophies. Inui, Emiko; Oishi, Akio; Oishi, Maho; Ogino, Ken; Makiyama, Yukiko; Gotoh, Norimoto; Kurimoto, Masafumi; Yoshimura, Nagahisa // Graefe's Archive of Clinical & Experimental Ophthalmology;Jul2014, Vol. 252 Issue 7, p1065 

    Purpose: To investigate the relationship between impairment of cone/rod photoreceptors and changes in optical coherence tomography (OCT) findings. Methods: We retrospectively reviewed the clinical records of 35 patients with cone-rod dystrophy (CRD) and 35 visual acuity-matched patients with...

  • EAT THIS NOW TO SAVE YOUR SIGHT. S. L. // Shape;Sep2006, Vol. 26 Issue 1, p166 

    The article presents information the findings of a study related to the usage of health-carb foods to protect eyesight. A new study published in the Periodical "The American Journal of Clinical Nutrition" shows that healthy-carb foods may help to protect eyes from age-related macular...

  • Vitamin for Vision?  // Journal of Gerontological Nursing;Aug2009, Vol. 35 Issue 8, p56 

    The article offers information on the result of the clinical study concerning the second phase of the Multifocal Electroretinogram (MERG) conducted at the UAB Callahan Eye Foundation Hospital in Birmingham, Alabama. The study showed that patients with age-related macular degeneration have...

  • Assessment of 'non-recordable' electroretinograms by 9 Hz flicker stimulation under scotopic conditions. Schatz, Andreas; Wilke, Robert; Strasser, Torsten; Gekeler, Florian; Messias, Andre; Zrenner, Eberhart // Documenta Ophthalmologica;Feb2012, Vol. 124 Issue 1, p27 

    To refine methods of electroretinographical (ERG) recording for the analysis of low retinal potentials under scotopic conditions in advanced retinal degenerative diseases. Standard Ganzfeld ERG equipment (Diagnosys LLC, Cambridge, UK) was used in 27 healthy volunteers (mean age 28 � SD 8.5...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics