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Quoted phrase not found in phrase index: "Cone-rod dystrophy 17"
Page 1
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X-linked retinoschisis), NYX (complete congenital stationary night blindness (CSNB)), C …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), R …
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y. Jiang F, et al. Invest Ophthalmol Vis Sci. 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. Invest Ophthalmol Vis Sci. 2016. PMID: 26780318
PURPOSE: Mutations in the ABCA4 gene are heterogeneous and somewhat ethnic specific and can result in autosomal recessive Stargardt disease (STGD1), cone or cone-rod dystrophy (CRD), and retinitis pigmentosa. The objective of this study was to determin …
PURPOSE: Mutations in the ABCA4 gene are heterogeneous and somewhat ethnic specific and can result in autosomal recessive Stargardt disease …
Causes and consequences of inherited cone disorders.
Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP. Roosing S, et al. Prog Retin Eye Res. 2014 Sep;42:1-26. doi: 10.1016/j.preteyeres.2014.05.001. Epub 2014 May 22. Prog Retin Eye Res. 2014. PMID: 24857951 Review.
Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone dystrophy (COD), cone-rod dystrophy (CRD), color vi …
Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or retinal pigment epithelium underlyi …
MERTK retinopathy: biomarkers assessing vision loss.
Sakti DH, Cornish EE, Mustafic N, Zaheer A, Retsas S, Rajagopalan S, Chung CW, Ewans L, McCluskey P, Nash BM, Jamieson RV, Grigg JR. Sakti DH, et al. Ophthalmic Genet. 2021 Dec;42(6):706-716. doi: 10.1080/13816810.2021.1955278. Epub 2021 Jul 22. Ophthalmic Genet. 2021. PMID: 34289798
PURPOSE: Mer tyrosine kinase-retinitis pigmentosa (MERTK-RP) causes a primary defect in the retinal pigment epithelium, which subsequently affects rod and cone photoreceptors. The study aims to identify the most appropriate MERTK-RP biomarkers to measure disease pro …
PURPOSE: Mer tyrosine kinase-retinitis pigmentosa (MERTK-RP) causes a primary defect in the retinal pigment epithelium, which subsequently a …
CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.
Daich Varela M, Duignan ES, De Silva SR, Ba-Abbad R, Fujinami-Yokokawa Y, Leo S, Fujinami K, Mahroo OA, Robson AG, Webster AR, Michaelides M. Daich Varela M, et al. Ophthalmol Retina. 2023 Oct;7(10):918-931. doi: 10.1016/j.oret.2023.06.007. Epub 2023 Jun 17. Ophthalmol Retina. 2023. PMID: 37331655 Free PMC article.
Seventy-seven percent of the participants had double-null genotypes, and 64% had electrophysiological assessment. Among the latter, 53% showed similar severity of rod and cone dysfunction, 27% revealed a rod-cone, 10% a cone-rod, and 10% …
Seventy-seven percent of the participants had double-null genotypes, and 64% had electrophysiological assessment. Among the latter, 53% show …
Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.
Bianco L, Arrigo A, Antropoli A, Manitto MP, Martina E, Aragona E, Bandello F, Battaglia Parodi M. Bianco L, et al. JAMA Ophthalmol. 2023 Sep 1;141(9):826-833. doi: 10.1001/jamaophthalmol.2023.3188. JAMA Ophthalmol. 2023. PMID: 37498587
IMPORTANCE: ABCA4-associated retinopathy is a common inherited retinal disease, and its phenotype spans from late-onset macular dystrophy to extensive cone-rod degeneration. Over 2000 disease-causing variants in the ABCA4 gene have been identified. ...Severe …
IMPORTANCE: ABCA4-associated retinopathy is a common inherited retinal disease, and its phenotype spans from late-onset macular dystrophy …
ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
De Zaeytijd J, Van Cauwenbergh C, De Bruyne M, Van Heetvelde M, De Baere E, Coppieters F, Leroy BP. De Zaeytijd J, et al. Retina. 2021 Jun 1;41(6):1346-1355. doi: 10.1097/IAE.0000000000003028. Retina. 2021. PMID: 34001834
PURPOSE: To describe an isolated maculopathy and an intermediate rod-cone dystrophy phenotype as the milder end of the RDH12-related retinal dystrophy spectrum. ...Both optical coherence tomography scans and autofluorescent imaging hint at relatively b …
PURPOSE: To describe an isolated maculopathy and an intermediate rod-cone dystrophy phenotype as the milder end of the …
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 …
Defining renal phenotype in Alström syndrome.
Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T. Baig S, et al. Nephrol Dial Transplant. 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. Nephrol Dial Transplant. 2020. PMID: 30307515
BACKGROUND: Alstrom syndrome (AS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features, including cone-rod retinal dystrophy, neuronal deafness, severe insulin resistance and major organ failure. ...Structural abnormalities such …
BACKGROUND: Alstrom syndrome (AS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features, including cone- …
NPHP1 FULL DELETION CAUSES NEPHRONOPHTHISIS AND A CONE-ROD DYSTROPHY.
Tauqeer Z, O'Neil EC, Brucker AJ, Aleman TS. Tauqeer Z, et al. Retin Cases Brief Rep. 2023 Jul 1;17(4):352-358. doi: 10.1097/ICB.0000000000001208. Epub 2021 Nov 17. Retin Cases Brief Rep. 2023. PMID: 36913617
PURPOSE: To describe in detail the structural and functional phenotypes of a patient with cone-rod dystrophy associated with a full deletion of the NPHP1 gene. ...CONCLUSION: NPHP1 -associated retinal degeneration may present as a cone-rod dy …
PURPOSE: To describe in detail the structural and functional phenotypes of a patient with cone-rod dystrophy associated …
83 results