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Page 1
Enhanced S-cone syndrome: Clinical spectrum in Indian population.
Naik A, Ratra D, Banerjee A, Dalan D, Jandyal S, Rao G, Sen P, Bhende M, Jayaprakash V, Susvar P, Walinjkar J, Rao C. Naik A, et al. Indian J Ophthalmol. 2019 Apr;67(4):523-529. doi: 10.4103/ijo.IJO_1480_18. Indian J Ophthalmol. 2019. PMID: 30900587 Free PMC article.
PURPOSE: Enhanced S-cone syndrome (ESCS), a rare disorder, is often misdiagnosed as other forms of retinal degenerations, which have a poorer prognosis than ESCS. ...
PURPOSE: Enhanced S-cone syndrome (ESCS), a rare disorder, is often misdiagnosed as other forms of retinal degen …
Recognizable Patterns of Submacular Fibrosis in Enhanced S-Cone Syndrome.
Alsalamah AK, Khan AO, Bakar AA, Schatz P, Nowilaty SR. Alsalamah AK, et al. Ophthalmol Retina. 2021 Sep;5(9):918-927. doi: 10.1016/j.oret.2021.03.014. Epub 2021 Apr 2. Ophthalmol Retina. 2021. PMID: 33819700
PURPOSE: To highlight recognizable patterns of subretinal fibrosis in enhanced S-cone syndrome (ESCS). DESIGN: Retrospective case series. ...
PURPOSE: To highlight recognizable patterns of subretinal fibrosis in enhanced S-cone syndrome (ESCS). DESIGN: R …
Evolution of macular hole in enhanced S-cone syndrome.
Magliyah MS, AlSulaiman SM, Schatz P, Nowilaty SR. Magliyah MS, et al. Doc Ophthalmol. 2021 Apr;142(2):239-245. doi: 10.1007/s10633-020-09787-8. Epub 2020 Aug 19. Doc Ophthalmol. 2021. PMID: 32815098
PURPOSE: To describe the stages of development and natural course of a full-thickness macular hole (FTMH) in a patient with enhanced S-cone syndrome (ESCS). METHODS: This study reported the serial ophthalmologic examinations and macular spectral-domain …
PURPOSE: To describe the stages of development and natural course of a full-thickness macular hole (FTMH) in a patient with enhanced …
Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients.
de Carvalho ER, Robson AG, Arno G, Boon CJF, Webster AA, Michaelides M. de Carvalho ER, et al. Ophthalmol Retina. 2021 Feb;5(2):195-214. doi: 10.1016/j.oret.2020.07.008. Epub 2020 Jul 15. Ophthalmol Retina. 2021. PMID: 32679203 Free PMC article.
PURPOSE: To describe the detailed phenotype, long-term clinical course, clinical variability, and genotype of patients with enhanced S-cone syndrome (ESCS). DESIGN: Retrospective case series. ...Eighteen sequence variants in NR2E3 were identified, incl …
PURPOSE: To describe the detailed phenotype, long-term clinical course, clinical variability, and genotype of patients with enhanced …
Incidence and Natural History of Retinochoroidal Neovascularization in Enhanced S-Cone Syndrome.
Nowilaty SR, Alsalamah AK, Magliyah MS, Alabdullah AA, Ahmad K, Semidey VA, Mura M, Schatz P. Nowilaty SR, et al. Am J Ophthalmol. 2021 Feb;222:174-184. doi: 10.1016/j.ajo.2020.09.010. Epub 2020 Sep 15. Am J Ophthalmol. 2021. PMID: 32941856 Free article.
OBJECTIVE: We examined the incidence and natural history of macular retinochoroidal neovascularization (RCN) in enhanced S-cone syndrome (ESCS). DESIGN: Retrospective case series. ...
OBJECTIVE: We examined the incidence and natural history of macular retinochoroidal neovascularization (RCN) in enhanced S- …
Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC, Chen FK. Heath Jeffery RC, et al. Surv Ophthalmol. 2024 Jan-Feb;69(1):1-23. doi: 10.1016/j.survophthal.2023.07.007. Epub 2023 Aug 6. Surv Ophthalmol. 2024. PMID: 37544613 Free article. Review.
Peripherinopathies may develop MNV that responds well to a short course of anti-vascular endothelial growth factor (anti-VEGF) therapy, while bestrophinopathies tend to develop MNV in the early stages of the disease without vision loss. Enhanced S-cone syn …
Peripherinopathies may develop MNV that responds well to a short course of anti-vascular endothelial growth factor (anti-VEGF) therapy, whil …
Expanded clinical spectrum of enhanced S-cone syndrome.
Yzer S, Barbazetto I, Allikmets R, van Schooneveld MJ, Bergen A, Tsang SH, Jacobson SG, Yannuzzi LA. Yzer S, et al. JAMA Ophthalmol. 2013 Oct;131(10):1324-30. doi: 10.1001/jamaophthalmol.2013.4349. JAMA Ophthalmol. 2013. PMID: 23989059 Free PMC article.
IMPORTANCE: New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal dystrophy. ...RESULTS: New clinical observations in ESCS include (1) torpedo-like, deep atroph …
IMPORTANCE: New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in dia …
Retinal Rings.
Lipscomb PM, Reddy AK. Lipscomb PM, et al. JAMA Ophthalmol. 2016 Apr;134(4):459-60. doi: 10.1001/jamaophthalmol.2015.3646. JAMA Ophthalmol. 2016. PMID: 26913929 No abstract available.
Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
Toms M, Ward N, Moosajee M. Toms M, et al. Genes (Basel). 2023 Jun 23;14(7):1325. doi: 10.3390/genes14071325. Genes (Basel). 2023. PMID: 37510230 Free PMC article. Review.
Pathogenic variants involving NR2E3 cause a spectrum of retinopathies, including enhanced S-cone syndrome, Goldmann-Favre syndrome, retinitis pigmentosa, and clumped pigmentary retinal degeneration, with limited evidence of genotype-phenotype correlati …
Pathogenic variants involving NR2E3 cause a spectrum of retinopathies, including enhanced S-cone syndrome, Goldm …
25 results