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Year Number of Results
1948 1
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1976 2
1977 4
1978 1
1979 1
1982 3
1983 3
1984 7
1985 2
1986 3
1987 2
1988 3
1989 3
1990 2
1991 1
1992 5
1993 4
1994 7
1995 7
1996 2
1997 2
1998 8
1999 7
2000 8
2001 6
2002 7
2003 3
2004 6
2005 4
2006 6
2007 8
2008 7
2009 4
2010 8
2011 10
2012 4
2013 5
2014 11
2015 7
2016 3
2017 6
2018 12
2019 10
2020 13
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2024 1

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Quoted phrase not found in phrase index: "Achromatopsia 4"
Page 1
Rod Monochromatism (Achromatopsia).
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:119-123. doi: 10.1007/978-3-319-95046-4_24. Adv Exp Med Biol. 2018. PMID: 30578497 Review.
Fundus examination is normal, though pigmentary mottling and atrophic changes may be observed at the macula. Incomplete achromatopsia: Patients in this group have somewhat better visual acuity, about 20/80 to 20/120, with some residual functioning of cone photorecep …
Fundus examination is normal, though pigmentary mottling and atrophic changes may be observed at the macula. Incomplete achromatop …
Foveal photoreceptor disruption in ocular diseases: An optical coherence tomography-based differential diagnosis.
Singh SR, Vaidya H, Borrelli E, Chhablani J. Singh SR, et al. Surv Ophthalmol. 2023 Jul-Aug;68(4):655-668. doi: 10.1016/j.survophthal.2023.03.003. Epub 2023 Mar 18. Surv Ophthalmol. 2023. PMID: 36934831 Review.
Retinal dystrophies such as cone dystrophy, occult macular dystrophy, and achromatopsia may present with diminution of vision and normal appearing fundus in a younger age group. ...Visual prognosis depends on the underlying etiology with complete recovery common in …
Retinal dystrophies such as cone dystrophy, occult macular dystrophy, and achromatopsia may present with diminution of vision …
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.
PURPOSE: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). DESIGN: Multicenter, observational study. PARTICIPANTS: A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia fr …
PURPOSE: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). DESIGN: Multicenter, observational study. P …
Color Vision in the Mountains.
Lankford HV, Hovis JK. Lankford HV, et al. Wilderness Environ Med. 2023 Dec;34(4):610-617. doi: 10.1016/j.wem.2023.08.003. Epub 2023 Sep 27. Wilderness Environ Med. 2023. PMID: 37775373
Instead, analysis of cards in combination with the low incidence of protan color vision defects at altitude indicated that glare and contrast effects in the extremely bright lighting environment combined with hypoxia likely caused the perception of a grayer r …
Instead, analysis of cards in combination with the low incidence of protan color vision defects at altitude indicated t …
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F. Brunetti-Pierri R, et al. Int J Mol Sci. 2021 Feb 7;22(4):1681. doi: 10.3390/ijms22041681. Int J Mol Sci. 2021. PMID: 33562422 Free PMC article.
Achromatopsia (ACHM) is a rare genetic disorder of infantile onset affecting cone photoreceptors. To determine the extent of progressive retinal changes in achromatopsia, we performed a detailed longitudinal phenotyping and genetic characterization of an Italian coh …
Achromatopsia (ACHM) is a rare genetic disorder of infantile onset affecting cone photoreceptors. To determine the extent of progress …
New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome.
Cheng WY, Ma MJ, Yuan SQ, Qi XL, Rong WN, Sheng XL. Cheng WY, et al. BMC Ophthalmol. 2022 Sep 26;22(1):386. doi: 10.1186/s12886-022-02597-3. BMC Ophthalmol. 2022. PMID: 36162988 Free PMC article.
Whole exome sequencing (WES) was performed for mutation detection. The silico analysis was also applied to predict the pathogenesis of identified pathogenic variants. RESULTS: In family 1, the proband showed low vision, hyperopia, photophobia, nystagmus, and total …
Whole exome sequencing (WES) was performed for mutation detection. The silico analysis was also applied to predict the pathogenesis o …
Color Vision Testing, Standards, and Visual Performance of the U.S. Military.
Gao H, Kirkendall CD, Kinney MJ, Preston AM, Reddix MD. Gao H, et al. Mil Med. 2023 Jan 4;188(1-2):49-57. doi: 10.1093/milmed/usac080. Mil Med. 2023. PMID: 35352814
INTRODUCTION: Color vision deficiency (CVD) is a disqualifying condition for military special duty occupations. Color vision testing and standards vary slightly among the U.S. military branches. ...
INTRODUCTION: Color vision deficiency (CVD) is a disqualifying condition for military special duty occupations. Color …
A nonhuman primate model of inherited retinal disease.
Moshiri A, Chen R, Kim S, Harris RA, Li Y, Raveendran M, Davis S, Liang Q, Pomerantz O, Wang J, Garzel L, Cameron A, Yiu G, Stout JT, Huang Y, Murphy CJ, Roberts J, Gopalakrishna KN, Boyd K, Artemyev NO, Rogers J, Thomasy SM. Moshiri A, et al. J Clin Invest. 2019 Feb 1;129(2):863-874. doi: 10.1172/JCI123980. Epub 2019 Jan 22. J Clin Invest. 2019. PMID: 30667376 Free PMC article.
Consequently, well-defined NHP models of heritable retinal diseases, particularly cone disorders that are predictive of human conditions, are necessary to more efficiently advance new therapies for patients. We have identified 4 related NHPs at the California Nation …
Consequently, well-defined NHP models of heritable retinal diseases, particularly cone disorders that are predictive of human conditi …
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.
Oh JK, Ryu J, Lima de Carvalho JR Jr, Levi SR, Lee W, Tsamis E, Greenstein VC, Mahajan VB, Allikmets R, Tsang SH. Oh JK, et al. Am J Ophthalmol. 2020 Oct;218:40-53. doi: 10.1016/j.ajo.2020.05.016. Epub 2020 May 21. Am J Ophthalmol. 2020. PMID: 32445700 Free PMC article.
Larger changes in gap width were noted in patients with Stargardt disease (78.1 mum/year) and cone dystrophies (31.9 mum/year) compared with patients with achromatopsia (16.2 mum/year) and occult macular dystrophy (15.4 mum/year). Gap height decreased in patients wi …
Larger changes in gap width were noted in patients with Stargardt disease (78.1 mum/year) and cone dystrophies (31.9 mum/year) compared with …
The impacts of abnormal color vision on people's life: an integrative review.
Stoianov M, de Oliveira MS, Dos Santos Ribeiro Silva MCL, Ferreira MH, de Oliveira Marques I, Gualtieri M. Stoianov M, et al. Qual Life Res. 2019 Apr;28(4):855-862. doi: 10.1007/s11136-018-2030-1. Epub 2018 Nov 15. Qual Life Res. 2019. PMID: 30443703 Review.
BACKGROUND: This article shows an integrative review on the impact that abnormal color vision may have on the daily routine of individuals. PURPOSE: We followed the PRISMA guidelines for reviews and carried out researches in four databases (Pubmed, Lilacs, Scopus, a …
BACKGROUND: This article shows an integrative review on the impact that abnormal color vision may have on the daily routine of …
241 results