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Results by year

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

Year Number of Results
1963 1
1964 2
1965 4
1966 2
1967 3
1968 4
1969 6
1970 3
1971 2
1972 5
1973 2
1974 2
1975 2
1976 2
1977 2
1978 1
1979 1
1980 2
1981 1
1983 1
1984 1
1985 1
1986 4
1987 2
1988 4
1989 6
1990 8
1991 3
1992 6
1993 5
1994 5
1995 6
1996 7
1997 7
1998 8
1999 7
2000 4
2001 4
2002 8
2003 9
2004 12
2005 7
2006 5
2007 13
2008 11
2009 11
2010 7
2011 3
2012 11
2013 8
2014 14
2015 9
2016 15
2017 16
2018 28
2019 7
2020 14
2021 21
2022 11
2023 14
2024 7

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359 results

Results by year

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Page 1
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ. Verbakel SK, et al. Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27. Prog Retin Eye Res. 2018. PMID: 29597005 Free article. Review.
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. ...RP typically manifests with night …
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone …
Color vision.
Carroll J, Conway BR. Carroll J, et al. Handb Clin Neurol. 2021;178:131-153. doi: 10.1016/B978-0-12-821377-3.00005-2. Handb Clin Neurol. 2021. PMID: 33832674 Review.
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. The most common underlying genetic mutations are autosomal recessive changes in CNGA3, CNGB3, GNAT2, PDE6H, PDE6C, or ATF6. Animal models of Cnga3, Cngb3, and Gnat2 have …
Achromatopsia is a rare congenital cause of vision loss due to isolated cone photoreceptor dysfunction. The most common underlying ge …
Retinitis pigmentosa.
Hamel C. Hamel C. Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. Orphanet J Rare Dis. 2006. PMID: 17032466 Free PMC article. Review.
Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the first symptom is night blindness, followed by the progressive loss in the peripheral visual field in daylight, and eventually leading to blindne …
Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the firs …
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X-linked retinoschisis), NYX (complete congenital stationary night blindness (CSNB)), CACNA1F …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (ret …
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.
Cremers FPM, Lee W, Collin RWJ, Allikmets R. Cremers FPM, et al. Prog Retin Eye Res. 2020 Nov;79:100861. doi: 10.1016/j.preteyeres.2020.100861. Epub 2020 Apr 9. Prog Retin Eye Res. 2020. PMID: 32278709 Free PMC article. Review.
Over the next two decades, variation in ABCA4 has been attributed to phenotypes other than the classically defined STGD1 or fundus flavimaculatus, ranging from early onset and fast progressing cone-rod dystrophy and retinitis pigmentosa-like phenotypes to very late …
Over the next two decades, variation in ABCA4 has been attributed to phenotypes other than the classically defined STGD1 or fundus flavimacu …
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. ACHM is caused by pathogenic varia …
Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an autosomal recessively inherited retinal disorder that …
Acquired color vision deficiency.
Simunovic MP. Simunovic MP. Surv Ophthalmol. 2016 Mar-Apr;61(2):132-55. doi: 10.1016/j.survophthal.2015.11.004. Epub 2015 Nov 30. Surv Ophthalmol. 2016. PMID: 26656928 Review.
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. Nassisi M, et al. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33847019 Free PMC article. Review.
Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy/retinitis pigmentosa (RP). We herein present a comprehensive review and analysis of all previously reported CNGB1 sequence variants, and add 22 novel variants, thereby enlargin …
Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy/retinitis pigmentosa (RP). We herein …
359 results