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

Year Number of Results
1964 1
1966 1
1968 2
1969 3
1971 1
1972 5
1973 2
1974 4
1975 2
1976 1
1977 5
1978 4
1979 4
1980 2
1981 1
1982 6
1983 4
1984 8
1985 1
1986 4
1987 6
1988 5
1989 5
1990 2
1991 5
1992 9
1993 9
1994 5
1995 15
1996 7
1997 6
1998 10
1999 9
2000 7
2001 12
2002 5
2003 5
2004 10
2005 16
2006 20
2007 14
2008 11
2009 7
2010 14
2011 21
2012 14
2013 15
2014 33
2015 24
2016 21
2017 23
2018 25
2019 31
2020 29
2021 29
2022 42
2023 32
2024 11

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557 results

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Quoted phrase not found in phrase index: "Cone dystrophy 4"
Page 1
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 …
Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which t …
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM. Zampaglione E, et al. Genet Med. 2020 Jun;22(6):1079-1087. doi: 10.1038/s41436-020-0759-8. Epub 2020 Feb 10. Genet Med. 2020. PMID: 32037395 Free PMC article.
RESULTS: Likely disease-causing single-nucleotide variants (SNVs) and small indels were found in 55.6% of subjects. PVs in USH2A (11.6%), RPGR (4%), and EYS (4%) were the most common. Likely causal CNVs were found in an additional 8.8% of patients. ...
RESULTS: Likely disease-causing single-nucleotide variants (SNVs) and small indels were found in 55.6% of subjects. PVs in USH2A (11.6%), RP …
Electrodiagnosis of dichromacy.
Barboni MTS, Hauzman E, Nagy BV, Martins CMG, Aher AJ, Tsai TI, Bonci DMO, Ventura DF, Kremers J. Barboni MTS, et al. Vision Res. 2019 May;158:135-145. doi: 10.1016/j.visres.2019.02.011. Epub 2019 Mar 7. Vision Res. 2019. PMID: 30844384 Free article.
Similarly, the response to a sudden excitation decrement dominates the overall response when combined with a gradual excitation increase. Here ERGs and VEPs were recorded from 34 volunteers [25.9 10.4 years old (mean 1 SD); 25 males, 9 females] to sawtooth flicker (4 …
Similarly, the response to a sudden excitation decrement dominates the overall response when combined with a gradual excitation increase. He …
ROSAH syndrome mimicking chronic uveitis.
Fardeau C, Alafaleq M, Dhaenens CM, Dollfus H, Koné-Paut I, Grunewald O, Morel JB, Titah C, Saadoun D, Lazeran PO, Meunier I. Fardeau C, et al. Clin Genet. 2023 Apr;103(4):453-458. doi: 10.1111/cge.14286. Epub 2022 Dec 30. Clin Genet. 2023. PMID: 36543582
To suggest a unique missense variant candidate based on long-term ophthalmological changes and associated systemic signs described in five patients from two unrelated families affected by an autosomal dominant multi-systemic disorder including Retinal dystrophy, Optic nerv …
To suggest a unique missense variant candidate based on long-term ophthalmological changes and associated systemic signs described in five p …
Classical tritanopia.
Alpern M, Kitahara K, Krantz DH. Alpern M, et al. J Physiol. 1983 Feb;335:655-81. doi: 10.1113/jphysiol.1983.sp014557. J Physiol. 1983. PMID: 6603508 Free PMC article.
In the dichromatic eye a single mechanism was found. It had the field sensitivity of Pi(4)(mu) whether measured with the blue, or with a violet (429.5 nm) test. ...Pi(4) and Pi(5) of the dichromatic eye are well fitted by linear combinations of the tritanopic matchi …
In the dichromatic eye a single mechanism was found. It had the field sensitivity of Pi(4)(mu) whether measured with the blue, or wit …
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C, Martín-Merida I, Blanco-Kelly F, Trujillo-Tiebas MJ, Avila-Fernandez A, Riveiro-Alvarez R, Del Pozo-Valero M, Perea-Romero I, Swafiri ST, Zurita O, Villaverde C, López MÁ, Romero R, Iancu IF, Núñez-Moreno G, Jiménez-Rolando B, Martin-Gutierrez MP, Carreño E, Minguez P, García-Sandoval B, Ayuso C, Corton M. Rodilla C, et al. Am J Ophthalmol. 2023 Oct;254:87-103. doi: 10.1016/j.ajo.2023.05.015. Epub 2023 Jun 15. Am J Ophthalmol. 2023. PMID: 37327959 Free article.
RESULTS: Four clinically different associated phenotypes were identified: 66.7% of families with cone/cone-rod dystrophy, 22.2% with Leber congenital amaurosis, 7.4% with early-onset retinitis pigmentosa, and 3.7% with congenital night blindness. ...Bi …
RESULTS: Four clinically different associated phenotypes were identified: 66.7% of families with cone/cone-rod dystrophy …
Refractive errors among commercial drivers.
Kumar M, Mahaseth A, Parveen S, Rafeeq U, Chauhan L. Kumar M, et al. Indian J Ophthalmol. 2022 Jun;70(6):2112-2116. doi: 10.4103/ijo.IJO_2510_21. Indian J Ophthalmol. 2022. PMID: 35647994 Free PMC article.
Refractive error for distance was reported in 44 (15.7%; 95% CI: 11.6-20.4) drivers. Hyperopia was reported in 23 (8.2%; 95% CI: 5.2-12) drivers, followed by myopia in 15 (5.3%; 95% CI: 3-8.6) drivers and astigmatism in six (2.1%; 95% CI: 0.7-4.5) drivers. ...Dry ey …
Refractive error for distance was reported in 44 (15.7%; 95% CI: 11.6-20.4) drivers. Hyperopia was reported in 23 (8.2%; 95% CI: 5.2- …
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.
RESULTS: The most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) variants. AHR variants were rare (0.4%). Atypical FH was seen in 67.4% of achromatopsia cases. Atypical FH in achr …
RESULTS: The most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and F …
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.
Sanjurjo-Soriano C, Jimenez-Medina C, Erkilic N, Cappellino L, Lefevre A, Nagel-Wolfrum K, Wolfrum U, Van Wijk E, Roux AF, Meunier I, Kalatzis V. Sanjurjo-Soriano C, et al. HGG Adv. 2023 Aug 7;4(4):100229. doi: 10.1016/j.xhgg.2023.100229. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37654703 Free PMC article.
There is an emblematic clinical and genetic heterogeneity associated with inherited retinal diseases (IRDs). The most common form is retinitis pigmentosa (RP), a rod-cone dystrophy caused by pathogenic variants in over 80 different genes. ...Non-syndromic RP organoi …
There is an emblematic clinical and genetic heterogeneity associated with inherited retinal diseases (IRDs). The most common form is retinit …
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.
Mean ONL thickness (range, SD) was 84.72 m (28.57-113.33, 25.46 m) and 86.47 m (28.57-113.33, 24.65 m) for right and left eyes, respectively. Mean cone densities (SD) at 190 m, 350 m, and 500 m from the foveal center, were 48.4 (24.6), 37.8 (14.7), and 30.7 (9.9), 1 …
Mean ONL thickness (range, SD) was 84.72 m (28.57-113.33, 25.46 m) and 86.47 m (28.57-113.33, 24.65 m) for right and left eyes, respectively …
557 results