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Retinitis Pigmentosa 11

RP11


Presentation

  • Acronym RP11 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • In this paper, we present a Drosophila model for Retinitis pigmentosa 11, a human disease caused by mutations in the splicing factor PRPF31. Here, we induced mutations in the Drosophila orthologue Prp31.[biorxiv.org]
  • The disease usually is present as an isolated eye disease but syndromal forms also occur as in this condition in which there is a similar disease of the retina in association with other problems elsewhere in the body.[disorders.eyes.arizona.edu]
  • Overall it has been noted that patients who manifest the disease present a severe form of retinal degeneration, often losing vision completely by the third decade.[cordis.europa.eu]
Asymptomatic
  • We studied the expression of RP11 in lymphoblast cell lines from 10 patients, including three who were clinically asymptomatic, with six distinct RP11 mutations.[semanticscholar.org]
  • Clinically asymptomatic carriers had levels of RP11 mRNA similar to controls and 29-42% higher than in clinically affected patients (0.0001[ncbi.nlm.nih.gov]
  • Assessment of CNV in asymptomatic and symptomatic mutation carrying individuals Genomic DNA was extracted from peripheral blood samples of PRPF31 mutation-carrying individuals under standard conditions (72 individuals: 42 symptomatic and 29 asymptomatic[nature.com]
  • Though our recent studies we demonstrated that symptomatic and asymptomatic individuals in a given sib-ship consistently inherited different wild-type (WT) alleles of pRPF from their unaffected parent.[discovery.ucl.ac.uk]
Movement Disorder
  • This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye.[books.google.de]
  • Extrapyramidal and movement disorders Hallervorden-Spatz syndrome /Pantothenate kinase-associated neurodegeneration (PKAN)/neurodegeneration with brain iron accumulation 1 (NBIA 1) Parkinson’s disease Shy-Drager syndrome /Multiple System Atrophy /Striatonigral[ndis.gov.au]
Pain
  • BCL-W expression by sponging miR-335-5p and promotes proliferation and invasion in renal cell carcinoma. ( 29070041 ) Wang K...Fei X 2017 24 Genome-wide association study suggests common variants within RP11-634B7.4 gene influencing severe pre-treatment pain[malacards.org]
  • Serious adverse events (SAEs) were reported in 3 patients: 2 subretinal movement of the implant, readjusted in a second surgery; 1 conjunctival erosion, due to slightly protruding cable, successfully treated; 1 pain event around the coil, surgically treatable[euretina.org]
Short Stature
  • Short stature, renal dysfunction, and polydactyly are some signs of Bardet-Biedl syndrome or Laurence-Moon syndrome when associated with pigmentary retinopathy.[patient.info]
  • Retinal dystrophy, juvenile cataracts, and short stature syndrome,616108 RDH12Leber congenital amaurosis 13612712 RDH5Fundus albipunctatus,136880 RGRRetinitis pigmentosa 44613769 RGS9Bradyopsia,608415 RGS9BPBradyopsia,608415 RHONight blindness, congenital[qgenomics.com]
Dentist
  • A pediatrician and a dentist need to be part of the medical team as well. Little is known about the prognosis and no specific treatment is available. However, special education, low vision aids and physical therapy might be beneficial.[disorders.eyes.arizona.edu]
Malocclusion
  • The teeth may have wide spaces between them and malocclusion is common. Learning difficulties and developmental delay seem to be part of the syndrome. Genetics: The family pattern is consistent with autosomal recessive inheritance.[disorders.eyes.arizona.edu]
Short Arm
  • The genetic length of the region harbouring this novel ARRP locus on the short arm of chromosome 2 is about 16 cM.[jmg.bmj.com]
  • Linkage mapping in a large, seven-generation family with type 2 autosomal dominant retinitis pigmentosa (ADRP) demonstrates linkage between the disease locus ( RP1 ) and DNA markers on the short arm of human chromosome 8 [4].[wikigenes.org]
Excitement
  • So, here I am catching up on some journal reading, when Nature sends out an eblast touting new exciting advances in stem cell work, including a paper about the eye.[blindness.org]
  • The genetic interval was refined to a 520kb region flanked by markers D19S927 and D19S781.2 Mutation screening led to the exciting discovery of splicing factor gene, PRPF31, implicated in RP11.[discovery.ucl.ac.uk]
  • Images were recorded with a Zeiss confocal laser scanning microscope with excitation wavelength of 488 nm (for FITC) and 543 nm (for Cy3).[emboj.embopress.org]
Insomnia
  • Most often the emotional disturbances include depression, disinterest in normal activities, insomnia, grief, mood changes, anxiety, inability to concentrate, extreme concern about managing a gluten-free lifestyle and other emotional and behavioral challenges[celiac.com]
  • Jing Deficiency : UB-17 , UB-26 , REN-4 , KI-3 For Spleen and Stomach Deficiency with Yuan Qi Deficiency : UB-21 , REN-12 , ST-36 Clinical Manifestations Dizziness Blurred vision Impaired vision Dry eyes Night blindness Tinnitus Headache Nervousness Insomnia[americandragon.com]
Headache
  • […] with distended feeling Flushed face Blurred vision Red, dry eyes with feeling of grit in eye Dry mouth and throat with bitter taste in mouth Palpitations Headache Nervousness Insomnia with much dreaming Dry throat Thirst Five Sole Heat (palms, soles[americandragon.com]
  • The patients of AR(D) type of inheritance had characteristic symptoms of headache, giddiness flashes of light and worsening of symptoms after any stress or strain.[ijo.in]
Learning Difficulties
  • Learning difficulties and developmental delay seem to be part of the syndrome. Genetics: The family pattern is consistent with autosomal recessive inheritance. A double gene mutation is responsible.[disorders.eyes.arizona.edu]

Workup

Hepatocellular Carcinoma
  • carcinoma. ( 30362374 ) Song H...Hao X 2018 5 Dependence of artesunate on long noncoding RNA-RP11 to inhibit epithelial-mesenchymal transition of hepatocellular carcinoma. ( 30335897 ) Jing W...Rongbo Z 2018 6 Long non-coding RNAs RP5-821D11.7, APCDD1L-AS1[malacards.org]
  • carcinoma Lrat Hereditary Eye Diseases Lrat , Rlbp1 , Rpe65 Hereditary Neoplastic Syndromes Pde6a hereditary night blindness Sag human immunodeficiency virus infectious disease Prpf8 Hypertriglyceridemia Rp1 Iron Overload Best1 Joubert syndrome Ush2a[rgd.mcw.edu]

Treatment

  • RP affects approximately 100,000 people in the US, and there are no effective treatments.[blog.cirm.ca.gov]
  • The Diabetic Retinopathy Study Research Group: Photocoagulation treatment of proliferative diabetic retinopathy: The second report of Diabetic Retinopathy Study findings. ‎[books.google.de]
  • 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.com]
  • That’s because without FDA approval, you have no treatment, even if you have great research and adequate funding.[blindness.org]
  • 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]

Prognosis

  • Diagnosis and Prognosis: An ophthalmologist is most likely to diagnose this condition based on an eye examination and an ERG. A pediatrician and a dentist need to be part of the medical team as well.[disorders.eyes.arizona.edu]
  • Dependence of artesunate on long noncoding RNA-RP11 to inhibit epithelial-mesenchymal transition of hepatocellular carcinoma. ( 30335897 ) Jing W...Rongbo Z 2018 6 Long non-coding RNAs RP5-821D11.7, APCDD1L-AS1 and RP11-277P12.9 were associated with the prognosis[malacards.org]
  • Prognosis The disorder will continue to progress, although slowly. Complete loss of vision is uncommon. Prevention Some assessment of the risk of having an affected child may be made by genetic counselling.[patient.info]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]

Epidemiology

  • Klein BEK, Moss SE, et al: The Wisconsin Epidemiologic Study of Diabetic Retinopathy, II: prevalence and risk of diabetic retinopathy when age at diagnosis is less than 30 years. ‎[books.google.de]
  • Isolated cases, with no family history, also commonly occur Epidemiology Prevalence in all ages is approximately 1 in 4,000 [ 1 ]. Three types have been found determined by age of onset.[patient.info]
  • 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]
  • Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl . 2002;(233):1-34. 3. Boughman JA. Population genetic studies of retinitis pigmentosa. Am J Hum Genet . 1980;32(2):223-235. 4. Berson EL, Rosner B, Sandberg MA, et al.[ndnr.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.com]
  • 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]
  • 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]
  • Patients are therefore hemizygotes for PRPF31, suggesting that the molecular pathophysiology of the disease is due to the functional loss of one allele and to haploinsufficiency [10] , [12] , [15] .[journals.plos.org]

Prevention

  • Foundation Fighting Blindness homepage The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa, age-related macular degeneration,[blindness.org]
  • Protein coding - E7EN72 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.[ensembl.org]
  • […] contacting any one of the following organizations: Foundation Fighting Blindness 11435 Cronhill Drive Owings Mills, MD 21117 (410) 568-0150 National Eye Institute National Institutes of Health 31 Center Drive MSC 2510 Bethesda, MD 20892 (301) 496-5248 Prevent[discoveryeye.org]
  • Scientist all over the world are working on solutions to enhance vision and prevent blindness in such cases. There seems to be a breakthrough in retinitis pigmentosa research now.[eyebulletin.com]
  • French biotech Horama has treated the first patients with a gene therapy for retinitis pigmentosa that could prevent the progressive loss of vision caused by this genetic condition.[labiotech.eu]

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