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Quoted phrase not found in phrase index: "Cone-rod dystrophy 20"
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 typically manifests with night blindness in adolescence, followed by concentric visual field loss, r …
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod …
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. ...ERGs range between mild and severe rod-cone dysfunction. Nine distinct RDH …
PURPOSE: To describe an isolated maculopathy and an intermediate rod-cone dystrophy phenotype as the milder end of the …
Analysis of retinal structure and function in cone dystrophy with supernormal rod response.
Abdelkader E, Yasir ZH, Khan AM, Raddadi O, Khandekar R, Alateeq N, Nowilaty S, AlShahrani N, Schatz P. Abdelkader E, et al. Doc Ophthalmol. 2020 Aug;141(1):23-32. doi: 10.1007/s10633-020-09748-1. Epub 2020 Jan 20. Doc Ophthalmol. 2020. PMID: 31960170
PURPOSE: To report the clinical and electrophysiological features of cone dystrophy with supernormal rod response (CDSRR). METHODS: Retrospective cohort study of 15 unrelated patients (nine males and six females, median age 16, range 5-47 years) diagnosed wit …
PURPOSE: To report the clinical and electrophysiological features of cone dystrophy with supernormal rod response (CDSR …
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 …
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 …
Tomographic comparison of cone-rod and rod-cone retinal dystrophies.
Inui E, Oishi A, Oishi M, Ogino K, Makiyama Y, Gotoh N, Kurimoto M, Yoshimura N. Inui E, et al. Graefes Arch Clin Exp Ophthalmol. 2014 Jul;252(7):1065-9. doi: 10.1007/s00417-014-2570-1. Epub 2014 Jan 18. Graefes Arch Clin Exp Ophthalmol. 2014. PMID: 24441883 Free article.
PURPOSE: To investigate the relationship between impairment of cone/rod photoreceptors and changes in optical coherence tomography (OCT) findings. METHODS: We retrospectively reviewed the clinical records of 35 patients with cone-rod dystrophy ( …
PURPOSE: To investigate the relationship between impairment of cone/rod photoreceptors and changes in optical coherence tomogr …
Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management.
Shoemaker A. Shoemaker A. Diabetes Obes Metab. 2024 Apr;26 Suppl 2:25-33. doi: 10.1111/dom.15494. Epub 2024 Feb 21. Diabetes Obes Metab. 2024. PMID: 38383825 Review.
Bardet-Biedl syndrome (BBS) is a genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, developmental delay and vision loss due to rod-cone dystrophy. BBS is an autosomal recessive disorder with >20 implica …
Bardet-Biedl syndrome (BBS) is a genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, developme …
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
Ganapathi M, Thomas-Wilson A, Buchovecky C, Dharmadhikari A, Barua S, Lee W, Ruan MZC, Soucy M, Ragi S, Tanaka J, Clark LN, Naini AB, Liao J, Mansukhani M, Tsang S, Jobanputra V. Ganapathi M, et al. Sci Rep. 2022 Jun 7;12(1):9358. doi: 10.1038/s41598-022-13026-2. Sci Rep. 2022. PMID: 35672425 Free PMC article.
Variants from ES were filtered, prioritized, and classified using the ACMG recommendations. Clinical diagnosis of the individuals included rod-cone dystrophy (60%), macular dystrophy (20%), cone-rod dystrophy (9%), cone …
Variants from ES were filtered, prioritized, and classified using the ACMG recommendations. Clinical diagnosis of the individuals included …
Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.
Aleman TS, O'Neil EC, O'Connor K, Jiang YY, Aleman IA, Bennett J, Morgan JIW, Toussaint BW. Aleman TS, et al. Ophthalmic Genet. 2021 Jun;42(3):252-265. doi: 10.1080/13816810.2021.1888132. Epub 2021 Mar 17. Ophthalmic Genet. 2021. PMID: 33729075 Free PMC article.
Gene screening identified compound heterozygous mutations in BBS7 (p.Val266Glu: c.797 T > A of maternal origin; c.1781_1783delCAT, paternal) in both patients.Conclusions: BBS7-associated retinal degeneration may present as a progressive cone-rod dystrophy …
Gene screening identified compound heterozygous mutations in BBS7 (p.Val266Glu: c.797 T > A of maternal origin; c.1781_1783delCAT, patern …
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 …
120 results