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Quoted phrase not found in phrase index: "Cone-rod dystrophy 24"
Page 1
Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M. Rodriguez-Martinez AC, et al. Int J Mol Sci. 2023 Sep 11;24(18):13932. doi: 10.3390/ijms241813932. Int J Mol Sci. 2023. PMID: 37762234 Free PMC article.
When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD). ...A total of 15 (48%) patients …
When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), r …
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG, Joo K, Han J, Choi M, Kim SW, Park KH, Park SJ, Lee CS, Byeon SH, Woo SJ. Kim DG, et al. Genes (Basel). 2023 May 8;14(5):1057. doi: 10.3390/genes14051057. Genes (Basel). 2023. PMID: 37239417 Free PMC article.
This study aimed to investigate the clinical characteristics of Korean patients with retinal dystrophy associated with pathogenic variants of cone rod homeobox-containing gene (CRX). ...Eleven patients with CRX-RD were included in this study. Six patients wit …
This study aimed to investigate the clinical characteristics of Korean patients with retinal dystrophy associated with pathogenic var …
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.
Jalili IK. Jalili IK. Eye (Lond). 2010 Nov;24(11):1659-68. doi: 10.1038/eye.2010.103. Epub 2010 Aug 13. Eye (Lond). 2010. PMID: 20706282
PURPOSE: To report a new phenotype with additional data on the oculo-dental syndrome of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) caused by mutations on CNNM4, a metal transporter, with linkage at achromatopsia locus 2q11 (Jalili syndrome). .. …
PURPOSE: To report a new phenotype with additional data on the oculo-dental syndrome of cone-rod dystrophy (CRD) and am …
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.
Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF. Nguyen XT, et al. Int J Mol Sci. 2020 Jan 28;21(3):835. doi: 10.3390/ijms21030835. Int J Mol Sci. 2020. PMID: 32012938 Free PMC article.
Additionally, the histopathology of the right eye from a patient with an end-stage cone-rod-dystrophy (CRD)/sector retinitis pigmentosa (RP) phenotype was examined. ...The mean macular sensitivity on microperimetry was 11.6 dB (SD: 7.8; range: 1.6-24.4 …
Additionally, the histopathology of the right eye from a patient with an end-stage cone-rod-dystrophy (CRD)/sector reti …
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
Wang J, Wang Y, Li S, Xiao X, Yi Z, Jiang Y, Li X, Jia X, Wang P, Jin C, Sun W, Zhang Q. Wang J, et al. Invest Ophthalmol Vis Sci. 2022 Aug 2;63(9):24. doi: 10.1167/iovs.63.9.24. Invest Ophthalmol Vis Sci. 2022. PMID: 35994252 Free PMC article.
RESULTS: In total, 22 biallelic RDH12 variants, including 5 novel variants, were identified in 29 patients from 27 families. Two distinct phenotypes were observed: early-onset and generalized retinal dystrophy with severe impairment of rods and cones in 24 pa …
RESULTS: In total, 22 biallelic RDH12 variants, including 5 novel variants, were identified in 29 patients from 27 families. Two distinct ph …
Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients.
Lima LH, Sallum JM, Spaide RF. Lima LH, et al. Retina. 2013 Oct;33(9):1877-80. doi: 10.1097/IAE.0b013e31829234e6. Retina. 2013. PMID: 23648999
PURPOSE: To analyze the outer retinal layers using spectral domain optical coherence tomography (SD-OCT) in patients with cone-rod dystrophy. METHODS: The diagnosis of cone-rod dystrophy was determined by primary cone involvement o …
PURPOSE: To analyze the outer retinal layers using spectral domain optical coherence tomography (SD-OCT) in patients with cone-rod …
Loss of Foveal Cone Structure Precedes Loss of Visual Acuity in Patients With Rod-Cone Degeneration.
Bensinger E, Rinella N, Saud A, Loumou P, Ratnam K, Griffin S, Qin J, Porco TC, Roorda A, Duncan JL. Bensinger E, et al. Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):3187-3196. doi: 10.1167/iovs.18-26245. Invest Ophthalmol Vis Sci. 2019. PMID: 31335944 Free PMC article.
PURPOSE: To assess the relationship between cone spacing and visual acuity in eyes with rod-cone degeneration (RCD) followed longitudinally. ...Cone spacing Z-score may be a more sensitive measure of cone loss at the fovea than visual acu …
PURPOSE: To assess the relationship between cone spacing and visual acuity in eyes with rod-cone degeneration (RCD) fol …
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec.
Stingl K, Kempf M, Bartz-Schmidt KU, Dimopoulos S, Reichel F, Jung R, Kelbsch C, Kohl S, Kortüm FC, Nasser F, Peters T, Wilhelm B, Wissinger B, Wozar F, Zrenner E, Fischer MD, Stingl K. Stingl K, et al. Br J Ophthalmol. 2022 Jun;106(6):831-838. doi: 10.1136/bjophthalmol-2020-318286. Epub 2021 Jan 20. Br J Ophthalmol. 2022. PMID: 33472769 Free PMC article.
A cone function improvement as measured by photopic CPC was observed in three eyes. ...CPC and DAC present new and fast ways to assess functional changes in retinotopic maps of rod and cone function, measuring complementary aspects of retinal function. …
A cone function improvement as measured by photopic CPC was observed in three eyes. ...CPC and DAC present new and fast ways t …
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH. Renner AB, et al. Ophthalmology. 2006 Nov;113(11):2066.e1-10. doi: 10.1016/j.ophtha.2006.05.045. Epub 2006 Aug 28. Ophthalmology. 2006. PMID: 16935340
Electroretinography (n = 13) was almost undetectable in 6 males and reduced in 6, indicating a rod-cone dystrophy. A further male showed a negative electroretinogram, with a b:a wave ratio of 0.5. Visual acuity of the 8 carriers (age, 4.8-56.8 years [mean, …
Electroretinography (n = 13) was almost undetectable in 6 males and reduced in 6, indicating a rod-cone dystrophy. A fu …
Progressive expansion of the hyperautofluorescent ring in cone-rod dystrophy patients.
Lima LH, Zett C, Kniggendorf V, Marianelli B, de Carvalho RAP, Farah ME, Sallum JMF. Lima LH, et al. Ophthalmic Genet. 2018 Aug;39(4):492-499. doi: 10.1080/13816810.2018.1461911. Epub 2018 Apr 19. Ophthalmic Genet. 2018. PMID: 29671671
PURPOSE: To evaluate the expansion of the hyperautofluorescent ring and the retinal structure changes over time in cone-rod dystrophy (CRD) patients, using fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT). ...CONCLUSION: …
PURPOSE: To evaluate the expansion of the hyperautofluorescent ring and the retinal structure changes over time in cone-rod …
30 results