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Quoted phrase not found in phrase index: "Retinitis pigmentosa 30"
Page 1
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ. Verbakel SK, et al. Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27. Prog Retin Eye Res. 2018. PMID: 29597005 Free article. Review.
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP ca …
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of ro …
Genes and mutations causing retinitis pigmentosa.
Daiger SP, Sullivan LS, Bowne SJ. Daiger SP, et al. Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19. Clin Genet. 2013. PMID: 23701314 Free PMC article. Review.
Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many disease-causing genes, many known mutations, and highly varied clinical consequences. ...Depending on the type of RP, and the technology used, it is possible to detect mutations in …
Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many disease-causing genes, many known mutati …
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM. Zampaglione E, et al. Genet Med. 2020 Jun;22(6):1079-1087. doi: 10.1038/s41436-020-0759-8. Epub 2020 Feb 10. Genet Med. 2020. PMID: 32037395 Free PMC article.
Of the three CNV detection methods, gCNV showed the highest accuracy. Approximately 30% of unsolved subjects had a single likely PV in a recessive IRD gene. ...
Of the three CNV detection methods, gCNV showed the highest accuracy. Approximately 30% of unsolved subjects had a single likely PV i …
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J. Haqq AM, et al. Lancet Diabetes Endocrinol. 2022 Dec;10(12):859-868. doi: 10.1016/S2213-8587(22)00277-7. Epub 2022 Nov 7. Lancet Diabetes Endocrinol. 2022. PMID: 36356613 Free PMC article. Clinical Trial.
Patients aged 6 years or older were included if they had a clinical diagnosis of Bardet-Biedl syndrome or Alstrom syndrome and obesity (defined as BMI >97th percentile for age and sex for those aged 6-15 years and 30 kg/m(2) for those aged 16 years). Patients were rando …
Patients aged 6 years or older were included if they had a clinical diagnosis of Bardet-Biedl syndrome or Alstrom syndrome and obesity (defi …
Retinitis pigmentosa: recent advances and future directions in diagnosis and management.
Fahim A. Fahim A. Curr Opin Pediatr. 2018 Dec;30(6):725-733. doi: 10.1097/MOP.0000000000000690. Curr Opin Pediatr. 2018. PMID: 30234647 Review.
PURPOSE OF REVIEW: Retinitis pigmentosa is a group of genetically diverse inherited blinding disorders for which there are no treatments. ...RECENT FINDINGS: This review will highlight the use of retinal imaging to measure progression of disease, next-generation seq …
PURPOSE OF REVIEW: Retinitis pigmentosa is a group of genetically diverse inherited blinding disorders for which there are no …
Cone rod dystrophies.
Hamel CP. Hamel CP. Orphanet J Rare Dis. 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. Orphanet J Rare Dis. 2007. PMID: 17270046 Free PMC article. Review.
CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast to typical retinitis pigmentosa (RP), also called the rod cone dystrophies (RCDs) resulting from the primary loss in rod phot …
CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast …
Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome).
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:153-156. doi: 10.1007/978-3-319-95046-4_28. Adv Exp Med Biol. 2018. PMID: 30578501 Review.
The fundus shows characteristic nummular pigmentary changes along the vascular arcades at the level of the retinal pigment epithelium (RPE). (In retinitis pigmentosa [RP], pigment is deposited within the retina.) ...Electroretinograms (ERGs) in ESCS are pathognomoni …
The fundus shows characteristic nummular pigmentary changes along the vascular arcades at the level of the retinal pigment epithelium (RPE). …
Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.
Daiger SP, Bowne SJ, Sullivan LS. Daiger SP, et al. Cold Spring Harb Perspect Med. 2014 Oct 10;5(10):a017129. doi: 10.1101/cshperspect.a017129. Cold Spring Harb Perspect Med. 2014. PMID: 25304133 Free PMC article. Review.
Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%-30% of these cases are autosomal dominant retinitis pigmentosa (adRP). ...
Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%-30% of these cases are autosomal dominant …
Retinitis pigmentosa-associated anterior subcapsular cataract: morphological features and visual performance.
Hou M, Bao X, Liu L, Ding Y, Luo F, Wu M. Hou M, et al. Int Ophthalmol. 2021 Nov;41(11):3631-3639. doi: 10.1007/s10792-021-01935-6. Epub 2021 Jun 27. Int Ophthalmol. 2021. PMID: 34180018
PURPOSE: To investigate the morphological features and surgical outcomes of retinitis pigmentosa (RP)-associated anterior subcapsular cataract (ASC). ...RESULTS: The mean age was 52.1 13.7 years, and the 41-50-year group had the best BCVA. 13.5% of eyes had BCVA bet …
PURPOSE: To investigate the morphological features and surgical outcomes of retinitis pigmentosa (RP)-associated anterior subc …
Corneal characteristics in patients with retinitis pigmentosa.
Zeki Fikret C, Ucgun NI, Karaca EE, Evren Kemer O. Zeki Fikret C, et al. Photodiagnosis Photodyn Ther. 2023 Jun;42:103554. doi: 10.1016/j.pdpdt.2023.103554. Epub 2023 Apr 6. Photodiagnosis Photodyn Ther. 2023. PMID: 37030435
BACKGROUND: To evaluate corneal topography and specular microscopic findings in patients with retinitis pigmentosa. METHODS: One hundred and two eyes of 51 patients with retinitis pigmentosa and 60 eyes of 30 healty subjects were included in our …
BACKGROUND: To evaluate corneal topography and specular microscopic findings in patients with retinitis pigmentosa. METHODS: O …
376 results