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Quoted phrase not found in phrase index: "X-linked cone-rod dystrophy 1"
Page 1
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M. Georgiou M, et al. Ophthalmology. 2023 Apr;130(4):413-422. doi: 10.1016/j.ophtha.2022.11.015. Epub 2022 Nov 22. Ophthalmology. 2023. PMID: 36423731 Free PMC article.
The majority (17/22) showed electroretinogram (ERG) evidence of a rod-cone dystrophy. Pattern ERG P50 was undetectable in all but 2 patients. ...The majority presented with early-onset severe retinal degeneration, with early macular involvement and complete l …
The majority (17/22) showed electroretinogram (ERG) evidence of a rod-cone dystrophy. Pattern ERG P50 was undetectable …
Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR).
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:53-60. doi: 10.1007/978-3-319-95046-4_12. Adv Exp Med Biol. 2018. PMID: 30578485 Review.
A heterogenous group of diseases, progressive cone dystrophy usually begins in the mid-teenage years or later in life. ...Visual acuity deteriorates to 20/200 or even counting fingers. There is some association between X-linked cone-rod …
A heterogenous group of diseases, progressive cone dystrophy usually begins in the mid-teenage years or later in life. ...Visu …
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. ...In contrast to typical retinitis pigmentosa (RP), also called the rod cone dystrophies …
Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the gr …
Clinical characteristics and current therapies for inherited retinal degenerations.
Sahel JA, Marazova K, Audo I. Sahel JA, et al. Cold Spring Harb Perspect Med. 2014 Oct 16;5(2):a017111. doi: 10.1101/cshperspect.a017111. Cold Spring Harb Perspect Med. 2014. PMID: 25324231 Free PMC article. Review.
Inherited retinal degenerations (IRDs) encompass a large group of clinically and genetically heterogeneous diseases that affect approximately 1 in 3000 people (>2 million people worldwide) (Bessant DA, Ali RR, Bhattacharya SS. 2001. Molecular genetics and prospects for …
Inherited retinal degenerations (IRDs) encompass a large group of clinically and genetically heterogeneous diseases that affect approximatel …
Electronegative Electroretinograms in the United Arab Emirates.
Alsalamah AK, Khan AO. Alsalamah AK, et al. Middle East Afr J Ophthalmol. 2020 Jul 20;27(2):86-90. doi: 10.4103/meajo.MEAJO_106_20. eCollection 2020 Apr-Jun. Middle East Afr J Ophthalmol. 2020. PMID: 32874040 Free PMC article.
PURPOSE: An electronegative electroretinogram (ERG), defined as having a b:a wave ratio 1 in the scotopic flash ERG response, indicates relative inner retinal dysfunction. ...The final clinical diagnoses were congenital stationary night blindness (CSNB) (two TRPM1-related …
PURPOSE: An electronegative electroretinogram (ERG), defined as having a b:a wave ratio 1 in the scotopic flash ERG response, indicat …
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ. Gardner JC, et al. Am J Hum Genet. 2010 Jul 9;87(1):26-39. doi: 10.1016/j.ajhg.2010.05.019. Epub 2010 Jun 24. Am J Hum Genet. 2010. PMID: 20579627 Free PMC article.
X-linked cone and cone-rod dystrophies (XLCOD and XLCORD) are a heterogeneous group of progressive disorders that solely or primarily affect cone photoreceptors. ...Mutations in the LW/MW cone opsin gene array can, therefore …
X-linked cone and cone-rod dystrophies (XLCOD and XLCORD) are a heterogeneous group of progressive …
Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.
Williams KM, Georgiou M, Kalitzeos A, Chow I, Hysi PG, Robson AG, Lingham G, Chen FK, Mackey DA, Webster AR, Hammond CJ, Prokhoda P, Carroll J, Michaelides M, Mahroo OA. Williams KM, et al. Invest Ophthalmol Vis Sci. 2022 Jun 1;63(6):15. doi: 10.1167/iovs.63.6.15. Invest Ophthalmol Vis Sci. 2022. PMID: 35704304 Free PMC article.
Compared with the TwinsUK cohort (n = 322; median age, 65.1 years) and Raine Study cohort (n = 1335; median age, 19.9 years), AL distributions were wider in the IRD groups. ...In subanalysis of RPGR-associated disease, longer average ALs occurred in cone-rod …
Compared with the TwinsUK cohort (n = 322; median age, 65.1 years) and Raine Study cohort (n = 1335; median age, 19.9 years), AL dist …
Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M. Daich Varela M, et al. Ophthalmology. 2023 Dec;130(12):1327-1335. doi: 10.1016/j.ophtha.2023.07.027. Epub 2023 Aug 5. Ophthalmology. 2023. PMID: 37544434 Free PMC article.
RESULTS: The prevalence of IRD-related CLV was 0.5%; 54% of patients had isolated retinitis pigmentosa (RP), 21% had early-onset severe retinal dystrophy, and less frequent presentations were syndromic RP, sector RP, cone-rod dystrophy, achromatopsia, …
RESULTS: The prevalence of IRD-related CLV was 0.5%; 54% of patients had isolated retinitis pigmentosa (RP), 21% had early-onset severe reti …
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium; Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ. Thiadens AA, et al. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20. Ophthalmology. 2012. PMID: 22264887
OBJECTIVE: To evaluate the clinical course, genetic etiology, and visual prognosis in patients with cone dystrophy (CD) and cone-rod dystrophy (CRD). DESIGN: Clinic-based, longitudinal, multicenter study. ...Ten years after diagnosis, 35% of CD …
OBJECTIVE: To evaluate the clinical course, genetic etiology, and visual prognosis in patients with cone dystrophy (CD) and …
Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.
Nassisi M, De Bartolo G, Mohand-Said S, Condroyer C, Antonio A, Lancelot ME, Bujakowska K, Smirnov V, Pugliese T, Neidhardt J, Sahel JA, Zeitz C, Audo I. Nassisi M, et al. Int J Mol Sci. 2022 Jun 28;23(13):7189. doi: 10.3390/ijms23137189. Int J Mol Sci. 2022. PMID: 35806195 Free PMC article.
Variants in the X-linked retinitis pigmentosa GTPase regulator gene (RPGR) and, specifically, in its retinal opening reading frame-15 isoform (RPGR(ORF15)) may cause rod-cone (RCD), cone, and cone-rod dystrophies (CDs and CR …
Variants in the X-linked retinitis pigmentosa GTPase regulator gene (RPGR) and, specifically, in its retinal opening reading f …
22 results