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]

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]

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]

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]

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]

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]

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]