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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1968 1
1970 1
1975 2
1977 1
1978 1
1982 2
1983 1
1985 1
1986 1
1988 2
1989 1
1991 3
1992 3
1993 3
1994 5
1995 1
1996 5
1997 3
1998 7
1999 6
2000 4
2001 3
2002 5
2003 5
2004 3
2005 3
2006 9
2007 9
2008 2
2009 4
2010 4
2011 6
2012 7
2013 2
2014 5
2015 8
2016 11
2017 7
2018 15
2019 10
2020 15
2021 12
2022 10
2023 6
2024 2

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201 results

Results by year

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Quoted phrase not found in phrase index: "Achromatopsia 7"
Page 1
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.
Weisschuh N, Obermaier CD, Battke F, Bernd A, Kuehlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl S. Weisschuh N, et al. Hum Mutat. 2020 Sep;41(9):1514-1527. doi: 10.1002/humu.24064. Epub 2020 Jun 29. Hum Mutat. 2020. PMID: 32531858
., choroideremia and retinoschisis) were analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification. Our study cohort accounts for 7% of the estimated 30,000 patients with IRD in Germany, thereby providing representative data for both the prevalence …
., choroideremia and retinoschisis) were analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification. Our study cohor …
Photoreceptor Structure in GNAT2-Associated Achromatopsia.
Georgiou M, Singh N, Kane T, Robson AG, Kalitzeos A, Hirji N, Webster AR, Dubra A, Carroll J, Michaelides M. Georgiou M, et al. Invest Ophthalmol Vis Sci. 2020 Mar 9;61(3):40. doi: 10.1167/iovs.61.3.40. Invest Ophthalmol Vis Sci. 2020. PMID: 32203983 Free PMC article.
RESULTS: All nine subjects (3 women) presented with nystagmus, decreased visual acuity (VA), light sensitivity, and highly variable color vision loss. One patient had normal color vision and better VA. ...Mean cone densities (SD) at 190 m, 350 m, and 5 …
RESULTS: All nine subjects (3 women) presented with nystagmus, decreased visual acuity (VA), light sensitivity, and highly variable color …
Characterization of Ebola Virus-Associated Eye Disease.
Eghrari AO, Bishop RJ, Ross RD, Davis B, Larbelee J, Amegashie F, Dolo RF, Prakalapakorn SG, Gaisie C, Gargu C, Sosu Y, Sackor J, Cooper PZ, Wallace A, Nyain R, Gray M, Kamara F, Burkholder B, Brady CJ, Ray V, Tawse KL, Yeung I, Neaton JD, Higgs ES, Lane HC, Reilly C, Sneller MC, Fallah MP. Eghrari AO, et al. JAMA Netw Open. 2021 Jan 4;4(1):e2032216. doi: 10.1001/jamanetworkopen.2020.32216. JAMA Netw Open. 2021. PMID: 33399856 Free PMC article.
Survivors were more likely to demonstrate color vision deficit (28.9% vs 19.0%, odds ratio [OR], 1.6; 95% CI, 1.2-2.1) and lower intraocular pressure (12.4 vs 13.5 mm Hg; mean difference, -1.2 mm Hg; 95% CI, -1.6 to -0.8 mm Hg) compared with close contacts. ...Among …
Survivors were more likely to demonstrate color vision deficit (28.9% vs 19.0%, odds ratio [OR], 1.6; 95% CI, 1.2-2.1) and low …
Cone rod dystrophies.
Hamel CP. Hamel CP. Orphanet J Rare Dis. 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. Orphanet J Rare Dis. 2007. PMID: 17270046 Free PMC article. Review.
CRD is characterized by primary cone involvement, or, sometimes, by concomitant loss of both cones and rods that explains the predominant symptoms of CRDs: decreased visual acuity, color vision defects, photoaversion and decreased sensitivity in the central v …
CRD is characterized by primary cone involvement, or, sometimes, by concomitant loss of both cones and rods that explains the predominant sy …
Clinical and Genetic Features of Korean Patients with Achromatopsia.
Choi YJ, Joo K, Lim HT, Kim SS, Han J, Woo SJ. Choi YJ, et al. Genes (Basel). 2023 Feb 18;14(2):519. doi: 10.3390/genes14020519. Genes (Basel). 2023. PMID: 36833446 Free PMC article.
CNGA3 and PDE6C were equally the most prevalent genes: CNGA3 (N = 8, 38.1%), PDE6C (N = 8, 38.1%), CNGB3 (N = 3, 14.3%), and GNAT2 (N = 2, 9.5%). The degree of functional and structural defects varied among the patients. The patients' age exhibited no significant correlati …
CNGA3 and PDE6C were equally the most prevalent genes: CNGA3 (N = 8, 38.1%), PDE6C (N = 8, 38.1%), CNGB3 (N = 3, 14.3%), and GNAT2 (N = 2, 9 …
Recurrent neuroretinitis.
Purvin VA, Chioran G. Purvin VA, et al. Arch Ophthalmol. 1994 Mar;112(3):365-71. doi: 10.1001/archopht.1994.01090150095030. Arch Ophthalmol. 1994. PMID: 8129663
MAIN OUTCOME MEASURES: Visual acuity, color vision, Goldmann perimetry, and fundus photography. RESULTS: Visual loss manifested as disc-related field defects with variable loss of acuity. ...Results of tests for specific inflammatory origins were normal. CONC …
MAIN OUTCOME MEASURES: Visual acuity, color vision, Goldmann perimetry, and fundus photography. RESULTS: Visual loss manifeste …
Neuro-ophthalmic Disease in Pediatric Glaucoma Practice.
Tirpack AR, Vanner EA, Sheheitli H, Mendoza CE, Grajewski A, Chang TC. Tirpack AR, et al. J Glaucoma. 2020 Feb;29(2):117-123. doi: 10.1097/IJG.0000000000001416. J Glaucoma. 2020. PMID: 31821182
The most common reasons for referral included suspected nonglaucomatous optic neuropathy (n=14), optic disc swelling (n=7), color vision deficiency (n=6), and nonglaucomatous visual field defect (n=4). ...Color vision abnormality, optic nerve pa …
The most common reasons for referral included suspected nonglaucomatous optic neuropathy (n=14), optic disc swelling (n=7), color …
Review of the main colour vision clinical assessment tests.
Fanlo Zarazaga A, Gutiérrez Vásquez J, Pueyo Royo V. Fanlo Zarazaga A, et al. Arch Soc Esp Oftalmol (Engl Ed). 2019 Jan;94(1):25-32. doi: 10.1016/j.oftal.2018.08.006. Epub 2018 Oct 22. Arch Soc Esp Oftalmol (Engl Ed). 2019. PMID: 30361001 Review. English, Spanish.
INTRODUCTION: Congenital colour vision deficiencies affect 8% of the male and 0.5% of the female population. ...CONCLUSIONS: The Anomaloscope is the "gold standard" in terms of colour vision testing, despite its incompatibility with daily clinical practice. ...
INTRODUCTION: Congenital colour vision deficiencies affect 8% of the male and 0.5% of the female population. ...CONCLUSIONS: The Anom …
Multifocal electroretinogram in birdshot chorioretinopathy.
Chiquet C, Berthemy-Pellet S, Altayrac-Bethenod J, Aptel F, Labarere J, Quesada JL, Gallice M, Tonini M, Khayi H, Romanet JP. Chiquet C, et al. Retina. 2015 Jun;35(6):1256-65. doi: 10.1097/IAE.0000000000000437. Retina. 2015. PMID: 25635576
Multifocal electroretinogram was prospectively evaluated using the Vision Monitor system. RESULTS: Birdshot chorioretinopathy eyes differed significantly from healthy eyes by a decrease in mean root mean square values (-24.7%), P1 (-17.3%) and N2 (-27.5%) amplitude, …
Multifocal electroretinogram was prospectively evaluated using the Vision Monitor system. RESULTS: Birdshot chorioretinopathy eyes di …
Achromatic and chromatic contrast discrimination in patients with type 2 diabetes.
Tsai LT, Chen CC, Hou CH, Liao KM. Tsai LT, et al. Sci Rep. 2023 May 8;13(1):7420. doi: 10.1038/s41598-023-34407-1. Sci Rep. 2023. PMID: 37156848 Free PMC article.
In this study, we aimed to investigate CS in patients without diabetic retinopathy (no-DR) and in those with non-proliferative DR (NPDR) and proliferative DR (PDR) using psychophysical methods with transient and sustained achromatic stimuli and color patches. Achromatic CS …
In this study, we aimed to investigate CS in patients without diabetic retinopathy (no-DR) and in those with non-proliferative DR (NPDR) and …
201 results