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Quoted phrase not found in phrase index: "Cone-rod dystrophy 22"
Page 1
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C, Martín-Merida I, Blanco-Kelly F, Trujillo-Tiebas MJ, Avila-Fernandez A, Riveiro-Alvarez R, Del Pozo-Valero M, Perea-Romero I, Swafiri ST, Zurita O, Villaverde C, López MÁ, Romero R, Iancu IF, Núñez-Moreno G, Jiménez-Rolando B, Martin-Gutierrez MP, Carreño E, Minguez P, García-Sandoval B, Ayuso C, Corton M. Rodilla C, et al. Am J Ophthalmol. 2023 Oct;254:87-103. doi: 10.1016/j.ajo.2023.05.015. Epub 2023 Jun 15. Am J Ophthalmol. 2023. PMID: 37327959 Free article.
RESULTS: Four clinically different associated phenotypes were identified: 66.7% of families with cone/cone-rod dystrophy, 22.2% with Leber congenital amaurosis, 7.4% with early-onset retinitis pigmentosa, and 3.7% with congenital night blindness …
RESULTS: Four clinically different associated phenotypes were identified: 66.7% of families with cone/cone-rod dystr …
Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy.
Kim DJ, Woo SJ, Joo K. Kim DJ, et al. Ophthalmic Res. 2024;67(1):9-22. doi: 10.1159/000535430. Epub 2023 Dec 13. Ophthalmic Res. 2024. PMID: 38091967 Free article.
INTRODUCTION: The objective of this study was to investigate the clinical characteristics and genetic spectrum of adult-onset cone/cone-rod dystrophy (AOCD/AOCRD) in Korean individuals. METHODS: This is a single-center, retrospective cross-sectional st …
INTRODUCTION: The objective of this study was to investigate the clinical characteristics and genetic spectrum of adult-onset cone/ …
Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.
Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K. Raming K, et al. Am J Ophthalmol. 2022 Feb;234:274-284. doi: 10.1016/j.ajo.2021.07.032. Epub 2021 Aug 2. Am J Ophthalmol. 2022. PMID: 34352251
PURPOSE: To elucidate morphological determinants of rod and cone dysfunction in Sorsby fundus dystrophy (SFD), and to systematically compare visual function tests for interventional trials. ...RESULTS: Although photopic BCVA was normative in SFD, LLVA was imp …
PURPOSE: To elucidate morphological determinants of rod and cone dysfunction in Sorsby fundus dystrophy (SFD), and to s …
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
Verbakel SK, van Huet RAC, den Hollander AI, Geerlings MJ, Kersten E, Klevering BJ, Klaver CCW, Plomp AS, Wesseling NL, Bergen AAB, Nikopoulos K, Rivolta C, Ikeda Y, Sonoda KH, Wada Y, Boon CJF, Nakazawa T, Hoyng CB, Nishiguchi KM. Verbakel SK, et al. Invest Ophthalmol Vis Sci. 2019 Mar 1;60(4):1192-1203. doi: 10.1167/iovs.18-26084. Invest Ophthalmol Vis Sci. 2019. PMID: 30913292
PURPOSE: To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. METHODS: In this multicenter case series, we included 22 patients with RP1-associated retinal dystrophies from 19 families from The Netherlands and Japan. ...RESULTS …
PURPOSE: To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. METHODS: In this multicenter case serie …
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF. Hahn LC, et al. Ophthalmol Retina. 2022 Aug;6(8):711-722. doi: 10.1016/j.oret.2022.03.008. Epub 2022 Mar 18. Ophthalmol Retina. 2022. PMID: 35314386 Free article.
OBJECTIVE: To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with the GUCY2D gene and to identify potential end points and optimal patient selection for future therapeutic trials. ...
OBJECTIVE: To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with t …
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. ...MAIN OU …
IMPORTANCE: ABCA4-associated retinopathy is a common inherited retinal disease, and its phenotype spans from late-onset macular dystrophy …
Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations.
Cideciyan AV, Jacobson SG, Swider M, Sumaroka A, Sheplock R, Krishnan AK, Garafalo AV, Guziewicz KE, Aguirre GD, Beltran WA, Heon E. Cideciyan AV, et al. Invest Ophthalmol Vis Sci. 2022 Dec 1;63(13):12. doi: 10.1167/iovs.63.13.12. Invest Ophthalmol Vis Sci. 2022. PMID: 36512348 Free PMC article.
PURPOSE: The purpose of this study was to evaluate rod and cone function and outer retinal structure within macular lesions, and surrounding extralesional areas of patients with autosomal dominant Best vitelliform macular dystrophy caused by BEST1 mutations. …
PURPOSE: The purpose of this study was to evaluate rod and cone function and outer retinal structure within macular lesions, a …
Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.
Collison FT, Fishman GA, Nagasaki T, Zernant J, McAnany JJ, Park JC, Allikmets R. Collison FT, et al. Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2347-2356. doi: 10.1167/iovs.19-26993. Invest Ophthalmol Vis Sci. 2019. PMID: 31136651 Free PMC article.
PURPOSE: To define characteristic ocular features in a group of patients with autosomal recessive (AR) PROM1 cone-rod dystrophy (CRD). METHODS: Three males and one female from three unrelated families were first seen at the ages of 15 to 22 years and d …
PURPOSE: To define characteristic ocular features in a group of patients with autosomal recessive (AR) PROM1 cone-rod dystr …
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. ...RESULTS: The international reg …
BACKGROUND: Alstrom syndrome (AS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features, including cone- …
62 results