Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1945 2
1946 18
1947 15
1948 13
1949 18
1950 12
1951 9
1952 8
1953 9
1954 7
1955 12
1956 11
1957 19
1958 13
1959 15
1960 20
1961 37
1962 25
1963 41
1964 62
1965 48
1966 65
1967 63
1968 82
1969 75
1970 75
1971 85
1972 148
1973 82
1974 123
1975 66
1976 112
1977 68
1978 109
1979 68
1980 63
1981 63
1982 87
1983 68
1984 59
1985 61
1986 64
1987 59
1988 61
1989 65
1990 51
1991 65
1992 91
1993 78
1994 68
1995 87
1996 53
1997 67
1998 91
1999 74
2000 69
2001 57
2002 69
2003 60
2004 105
2005 85
2006 81
2007 70
2008 67
2009 86
2010 96
2011 67
2012 73
2013 79
2014 96
2015 104
2016 94
2017 93
2018 110
2019 90
2020 98
2021 117
2022 100
2023 102
2024 33

Text availability

Article attribute

Article type

Publication date

Search Results

4,925 results

Results by year

Filters applied: . Clear all
Page 1
Showing results for achromatopsia
Your search for chromatelopsia retrieved no results
Achromatopsia: Genetics and Gene Therapy.
Michalakis S, Gerhardt M, Rudolph G, Priglinger S, Priglinger C. Michalakis S, et al. Mol Diagn Ther. 2022 Jan;26(1):51-59. doi: 10.1007/s40291-021-00565-z. Epub 2021 Dec 3. Mol Diagn Ther. 2022. PMID: 34860352 Free PMC article. Review.
Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an autosomal recessively inherited retinal disorder that affects the cones of the retina, the type of photoreceptors responsible for high-acuity daylight vision. ...The loss o …
Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an autosomal recessively inherited retinal …
Achromatopsia: a review.
Remmer MH, Rastogi N, Ranka MP, Ceisler EJ. Remmer MH, et al. Curr Opin Ophthalmol. 2015 Jul;26(5):333-40. doi: 10.1097/ICU.0000000000000189. Curr Opin Ophthalmol. 2015. PMID: 26196097 Review.
SUMMARY: Genetic understanding and disease characterization of achromatopsia continues to evolve, as do gene therapy tools and animal models. The potential for the treatment of achromatopsia in humans with gene therapy shows great promise....
SUMMARY: Genetic understanding and disease characterization of achromatopsia continues to evolve, as do gene therapy tools and animal …
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.
Vision is usually about 20/200 or worse; patients have a hyperopic refractive error. ...This milder form allows some color discrimination. Complete achromatopsia: It occurs in about 4-10% of Pingelapese islanders, who live on one of the Eastern Caroline Islan …
Vision is usually about 20/200 or worse; patients have a hyperopic refractive error. ...This milder form allows some color dis …
[Achromatopsia].
Poloschek CM, Kohl S. Poloschek CM, et al. Ophthalmologe. 2010 Jun;107(6):571-80; quiz 581-2. doi: 10.1007/s00347-010-2178-8. Ophthalmologe. 2010. PMID: 20533046 Review. German.
Color discrimination is not possible, and visual acuity is severely reduced. In addition to a thorough ophthalmic examination, color vision tests and electrophysiology are prerequisites to establish a diagnosis of achromatopsia. ...
Color discrimination is not possible, and visual acuity is severely reduced. In addition to a thorough ophthalmic examination, col …
Achromatopsia: on the doorstep of a possible therapy.
Zobor D, Zobor G, Kohl S. Zobor D, et al. Ophthalmic Res. 2015;54(2):103-8. doi: 10.1159/000435957. Epub 2015 Aug 21. Ophthalmic Res. 2015. PMID: 26304472 Free article. Review.
Achromatopsia (ACHM) is a rare autosomal recessive inherited retinal disorder with an incidence of approximately 1 in 30,000. It presents at birth or early infancy and is typically characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent c …
Achromatopsia (ACHM) is a rare autosomal recessive inherited retinal disorder with an incidence of approximately 1 in 30,000. It pres …
Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.
Hirji N, Aboshiha J, Georgiou M, Bainbridge J, Michaelides M. Hirji N, et al. Ophthalmic Genet. 2018 Apr;39(2):149-157. doi: 10.1080/13816810.2017.1418389. Epub 2018 Jan 5. Ophthalmic Genet. 2018. PMID: 29303385 Review.
Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia and nystagmus. ...
Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia …
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.
Fischer MD, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Ochakovski GA, Klein R, Schoen C, Sothilingam V, Garcia-Garrido M, Kuehlewein L, Kahle N, Werner A, Dauletbekov D, Paquet-Durand F, Tsang S, Martus P, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B. Fischer MD, et al. JAMA Ophthalmol. 2020 Jun 1;138(6):643-651. doi: 10.1001/jamaophthalmol.2020.1032. JAMA Ophthalmol. 2020. PMID: 32352493 Free PMC article. Clinical Trial.
No treatment is currently available. OBJECTIVE: To assess safety and vision outcomes of supplemental gene therapy with adeno-associated virus (AAV) encoding CNGA3 (AAV8.CNGA3) in patients with CNGA3-linked achromatopsia. ...Despite the congenital deprivation of cone …
No treatment is currently available. OBJECTIVE: To assess safety and vision outcomes of supplemental gene therapy with adeno-associat …
Cerebral achromatopsia secondary to ischemic stroke.
Zhou C, He Y, Li X. Zhou C, et al. Neurol India. 2018 Mar-Apr;66(2):573-575. doi: 10.4103/0028-3886.227322. Neurol India. 2018. PMID: 29547203 Free article. Review. No abstract available.
Gene therapy for achromatopsia.
Michalakis S, Schön C, Becirovic E, Biel M. Michalakis S, et al. J Gene Med. 2017 Mar;19(3). doi: 10.1002/jgm.2944. J Gene Med. 2017. PMID: 28095637 Review.
The present review summarizes the current status of achromatopsia (ACHM) gene therapy-related research activities and provides an outlook for their clinical application. ...As a consequence, ACHM is associated with strongly impaired daylight vision, photophobia, nys …
The present review summarizes the current status of achromatopsia (ACHM) gene therapy-related research activities and provides an out …
Gene Therapy for Color Blindness.
Hassall MM, Barnard AR, MacLaren RE. Hassall MM, et al. Yale J Biol Med. 2017 Dec 19;90(4):543-551. eCollection 2017 Dec. Yale J Biol Med. 2017. PMID: 29259520 Free PMC article. Review.
Achromatopsia is a rare congenital cause of vision loss due to isolated cone photoreceptor dysfunction. ...This review details the AAV gene therapy treatments of achromatopsia to date. We also present novel data showing rescue of a Cnga3(-/-) mouse model usin …
Achromatopsia is a rare congenital cause of vision loss due to isolated cone photoreceptor dysfunction. ...This review details …
4,925 results