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Quoted phrase not found in phrase index: "Retinitis pigmentosa 40"
Page 1
Ciliopathy: Usher Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:167-170. doi: 10.1007/978-3-319-95046-4_32. Adv Exp Med Biol. 2018. PMID: 30578505 Review.
Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple organ systems. Usher syndrome is the most common syndromic cause of retinitis pigmentosa (RP) and accounts for 10-20% of cases …
Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple o …
An update on retinal prostheses.
Ayton LN, Barnes N, Dagnelie G, Fujikado T, Goetz G, Hornig R, Jones BW, Muqit MMK, Rathbun DL, Stingl K, Weiland JD, Petoe MA. Ayton LN, et al. Clin Neurophysiol. 2020 Jun;131(6):1383-1398. doi: 10.1016/j.clinph.2019.11.029. Epub 2019 Dec 10. Clin Neurophysiol. 2020. PMID: 31866339 Free PMC article. Review.
Retinal implants are options for people with severe stages of retinal degenerative disease such as retinitis pigmentosa and age-related macular degeneration. There have now been three regulatory-approved retinal prostheses. ...Current challenges include how to impro …
Retinal implants are options for people with severe stages of retinal degenerative disease such as retinitis pigmentosa and ag …
Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK. Heath Jeffery RC, et al. Ophthalmic Genet. 2023 Aug;44(4):352-360. doi: 10.1080/13816810.2023.2196338. Epub 2023 Apr 4. Ophthalmic Genet. 2023. PMID: 37013444
BACKGROUND: To establish the proportion of patients with retinitis pigmentosa (RP) meeting the Australian fitness to drive (FTD) visual standards. ...Phenotype and genotype predictors for passing the standards warrant further investigation.Abbreviation: FTD, fitness …
BACKGROUND: To establish the proportion of patients with retinitis pigmentosa (RP) meeting the Australian fitness to drive (FT …
Dominant ARL3-related retinitis pigmentosa.
Holtan JP, Teigen K, Aukrust I, Bragadóttir R, Houge G. Holtan JP, et al. Ophthalmic Genet. 2019 Apr;40(2):124-128. doi: 10.1080/13816810.2019.1586965. Epub 2019 Apr 1. Ophthalmic Genet. 2019. PMID: 30932721
PURPOSE: To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a specific ARL3 missense variant, p.(Tyr90Cys). ...Now the questionmark can be removed, and ARL3 should be added to the list of genes that may …
PURPOSE: To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a s …
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Glöckle N, et al. Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17. Eur J Hum Genet. 2014. PMID: 23591405 Free PMC article.
Depending on the initial clinical diagnosis, we identified likely causative mutations in 55% of retinitis pigmentosa and 80% of Bardet-Biedl or Usher syndrome cases. Seventy-one novel mutations in 40 genes were newly associated with RD. The genes USH2A, EYS, …
Depending on the initial clinical diagnosis, we identified likely causative mutations in 55% of retinitis pigmentosa and 80% o …
Clinical presentation and macular morphology in retinitis pigmentosa patients.
Okonkwo ON, Hassan AO, Agweye CT, Victor U, Akanbi T. Okonkwo ON, et al. Ann Afr Med. 2023 Oct-Dec;22(4):451-455. doi: 10.4103/aam.aam_181_22. Ann Afr Med. 2023. PMID: 38358145 Free PMC article.
BACKGROUND: Optical coherence tomography (OCT) is a noninvasive, frequently used imaging technology that enables detailed viewing of retina anatomy. It is used to monitor disease progression in retinitis pigmentosa (RP) eyes, including detecting changes in retinal t …
BACKGROUND: Optical coherence tomography (OCT) is a noninvasive, frequently used imaging technology that enables detailed viewing of retina …
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.
Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In con …
Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopath …
Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.
Daich Varela M, Wong SW, Kiray G, Schlottmann PG, Arno G, Shams ANA, Mahroo OA, Webster AR, AlTalbishi A, Michaelides M. Daich Varela M, et al. Am J Ophthalmol. 2023 Dec;256:186-195. doi: 10.1016/j.ajo.2023.06.026. Epub 2023 Jul 7. Am J Ophthalmol. 2023. PMID: 37422204 Free PMC article.
Longitudinal analysis showed significant differences between baseline and follow-up central macular thickness (-1.25 m/y), outer nuclear layer thickness (-1.19 m/y), and ellipsoid zone width (-40.9 m/y). The rate of visual acuity decline was 0.02 LogMAR (1 letter)/y, and t …
Longitudinal analysis showed significant differences between baseline and follow-up central macular thickness (-1.25 m/y), outer nuclear lay …
Development of experimental treatments for patients with retinitis pigmentosa.
Lozano B LL, Cervantes A LA. Lozano B LL, et al. Arch Soc Esp Oftalmol (Engl Ed). 2023 Nov;98(11):646-655. doi: 10.1016/j.oftale.2023.08.008. Epub 2023 Aug 26. Arch Soc Esp Oftalmol (Engl Ed). 2023. PMID: 37640142 Free article. Review.
Retinitis pigmentosa (RP) is a group of inherited diseases that lead to degeneration of the retina and decreased vision. ...In conclusion, each of these therapies promises a viable treatment in the future for selective groups of people with retinitis pigme …
Retinitis pigmentosa (RP) is a group of inherited diseases that lead to degeneration of the retina and decreased vision. ...In …
279 results