Edit concept Question Editor Create issue ticket

Retinitis Pigmentosa 37


Presentation

  • The research presented at the meeting, and described in this proceedings volume, reflects a strong emphasis on the molecular genetic approach to understa- ing these disorders.[books.google.de]
  • Acronym RP37 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Download citation file: Ris (Zotero) EndNote BibTex Medlars ProCite RefWorks Reference Manager ARVO (1962-2015); The Authors (2016-present) Supplements Abstract Purpose: : Inherited retinal dystrophies such as retinitis pigmentosa (RP) and cone-rod dystrophy[iovs.arvojournals.org]
  • The present series includes 14 patients and hence is not large enough to justify one in drawing absolute conclusions. Case 1. —R.[jamanetwork.com]
Macula
  • The retinas contained only scattered cones in the midperiphery; the maculas and far peripheral regions contained reduced numbers of rods and cones with short to absent outer segments.[iovs.arvojournals.org]
  • Fundus changes may vary from mild pigment granularity to a distinct atrophic lesion in the central macula.[preventiongenetics.com]
  • In macular degeneration (see Chap. 243 ), cones and rods degenerate in the macula but not elsewhere in the retina.[ommbid.mhmedical.com]
Night Blindness
  • Results: : In families A and B, respectively 2 and 3 affected individuals showed a classic RP phenotype with night blindness followed by concentric loss of visual field.[iovs.arvojournals.org]
  • In young patients with the symptom of night blindness, it is important to differentiate retinitis pigmentosa from stationary night blindness.[ommbid.mhmedical.com]
  • blindness, congenital stationary GNAT2 Achromatopsia GPR98 recessive Usher syndrome GPR125 recessive retinitis pigmentosa GPR179 Night blindness, congenital stationary GRK1 Oguchi disease GRM6 Night blindness, congenital stationary GRN Neuronal Ceroid[molecularvisionlab.com]
  • 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]
Retinal Pigmentation
  • Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors.[uniprot.org]
  • Pigment Epithelial Cell Differentiation and Cell Marker 559 About the Editors 568 Urheberrecht Häufige Begriffe und Wortgruppen Bibliografische Informationen[books.google.de]
  • Pigment Epithelial Cell Differentiation and Cell Marker 559 About the Editors 568 حقوق النشر معلومات المراجع[books.google.com]
  • pigment epithelium, or (c) a peculiar sensitivity of the photoreceptors or the retinal pigment epithelium to a generalized metabolic defect.[ommbid.mhmedical.com]
Photophobia
  • Name Retinitis Pigmentosa 37 Synonyms - Classification eye, genetic Phenotypes Autosomal dominant inheritance ; Autosomal recessive inheritance ; Cataract ; Cystoid macular degeneration ; Nyctalopia ; Photophobia ; Pigmentary retinopathy ; Red-green dyschromatopsia[mousephenotype.org]
  • The initial symptoms were photophobia and subsequent visual loss to counting fingers. Ophthalmoscopic features included profound macular atrophy. OCT and AF showed macular photoreceptor degeneration.[iovs.arvojournals.org]
  • The most common symptoms are photophobia and epiphora in bright light, decreased visual acuity, and dyschromatopsia. Fundus changes may vary from mild pigment granularity to a distinct atrophic lesion in the central macula.[preventiongenetics.com]
  • Red contact lenses for alleviation of photophobia in patients with cone disorders, Am. J. Ophthalmol. 2004;137:774-75 30) Wolfensberger TJ. The role of carbonic anhydrase inhibitors in the management of macular edema.[malattierare.regione.veneto.it]
Withdrawn
  • […] inheritance ; Cataract ; Cystoid macular degeneration ; Nyctalopia ; Photophobia ; Pigmentary retinopathy ; Red-green dyschromatopsia ; Rod-cone dystrophy ; Tritanomaly ; Undetectable light- and dark-adapted electroretinogram Associated Genes NR2E3 (Withdrawn[mousephenotype.org]
Onset in Adolescence
  • Conclusions: : Mutations in the C8orf37 gene give rise to an early-onset or adolescent-onset autosomal recessive cone-rod dystrophy or autosomal recessive retinitis pigmentosa phenotype with early severe macular involvement.[iovs.arvojournals.org]

Treatment

  • 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]
  • Treatment Treatment Options: No treatment has been reported for this disorder.[disorders.eyes.arizona.edu]
  • Currently, there are no effective treatments for this disease.[prnewswire.com]
  • He cautions that it is too early in the study to address treatment efficacy. Dr. Klassen says that the therapy has two potential advantages over other stem-cell therapies for the retina.[blindness.org]
  • The primary symptoms of RP and treatment options are discussed in detail.[retinitispigmentosatreatment.com]

Prognosis

  • The prognosis for the recessive and X-linked groups is poor; that is, visual acuity diminishes more rapidly in these patients than in the autosomal dominant group.[link.springer.com]
  • Prognosis Except for mild cases or sectorial RP, most cases progress to legal blindness (visual acuity 1/20 and visual field 5 degrees). The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Some investigators have found a general correlation between age-related visual acuity and mode of inheritance , suggesting that autosomal dominant retinitis pigmentosa has the best prognosis, whereas males with X-linked forms have the worst prognosis[bredagenetics.com]
  • A long term follow-up and visual prognosis. Acta Opthalmol Scand 2000;78:532-5. 7. Rajendram R, Deane JA, Barnes M, Swift PG, Adamson K, Pearce S, et al.[jcor.in]
  • The study of miRNA biomarkers implicating in pathogenesis, diagnosis and prognosis of retinal degenerations represents a translational topic of increased research interest, especially because miRNAs themselves might be considered as therapeutic targets[omicsonline.org]

Etiology

  • The etiology of URP is unknown although several studies regarding genetic causes that resulted in URP have been reported in recent years.[synapse.koreamed.org]
  • Etiology More than 3,000 mutations in over 57 different genes or loci are currently known to cause non-syndromic RP.[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]
  • CEP164 Nephronophthisis CEP250 recessive Usher syndrome CEP290/BBS14 Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome CERKL Retinitis pigmentosa CFH age-related macular degeneration, complex etiology[molecularvisionlab.com]

Epidemiology

  • Keywords: degenerations/dystrophies • mutations • clinical (human) or epidemiologic studies: natural history 2012, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved.[iovs.arvojournals.org]
  • Summary Epidemiology Prevalence of RP is reported to be 1/3,000 to 1/5,000. No ethnic specificities have been reported although founder effects are possible. Clinical description Retinitis pigmentosa is slowly progressive but relentless.[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]
  • The results of our review can serve as a platform for formulating RP-centred health policies and in encouraging the involved countries towards maintaining an epidemiological register.[jpma.org.pk]
  • Results Epidemiologic and pathologic information of all 38 patients and 35 controls are shown in Table 1 .[ajnr.org]
Sex distribution
Age distribution

Pathophysiology

  • Background : Cystoid macular edema (CME) and non-leaking intraretinal cystoid spaces (ICS) have different pathophysiologic mechanisms.[tandfonline.com]
  • 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]
  • PMID: 26962691 A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies. Sorrentino FS, Gallenga CE, Bonifazzi C, Perri P.[bredagenetics.com]
  • These findings may have important clinical implications in disease management because neurodegenerative pathophysiology may be early present in the course of the disease.[nature.com]

Prevention

  • Such knowledge might then be used to design genetic and molecular therapies that prevent, or slow down the disease process.[tcd.ie]
  • Researchers believe the cells will release proteins that will keep the patient’s existing photoreceptors healthy, preventing their degeneration and preserving vision.[blindness.org]
  • 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]
  • We may be able to prevent other health problems because of the valuable information in the book. 10. Ophthalmology in Chinese Medicine by Wei Qi-ping, Andy Rosenfarb, and Liang Li-na A text is a clincal manual for practicing acupuncturists.[retinitispigmentosatreatment.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!