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]
Skin
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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]
Eyes
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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]
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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]
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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]
Psychiatrical
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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]
Neurologic
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Cognitive Impairment
impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Dysautonomia; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormality of upper limb bone 0 [clinvarminer.genetics.utah.edu]
impairment (score greater than 24 measured with Mini-Mental State Examination [MMSE]). [rehab.research.va.gov]
Onset
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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 and [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]
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]
Editorial Impure Perfluorocarbon Liquids: A Preventable Tragedy Chang, Stanley; Simpson, R. Nigel Retina. 37(6):1019-1020, June 2017. [journals.lww.com]