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

Year Number of Results
1964 2
1965 1
1966 1
1967 1
1969 4
1972 1
1974 1
1975 2
1976 1
1977 2
1978 2
1979 1
1980 4
1981 1
1982 1
1983 1
1984 1
1985 1
1986 5
1987 2
1988 2
1989 1
1990 3
1991 2
1992 7
1993 8
1994 5
1995 6
1996 3
1997 3
1998 6
1999 9
2000 3
2001 4
2002 8
2003 5
2004 4
2005 5
2006 11
2007 11
2008 7
2009 10
2010 11
2011 11
2012 8
2013 6
2014 16
2015 19
2016 12
2017 11
2018 23
2019 19
2020 22
2021 23
2022 27
2023 22
2024 5

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345 results

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Quoted phrase not found in phrase index: "Cone dystrophy 4"
Page 1
Ciliopathy: Usher Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:167-170. doi: 10.1007/978-3-319-95046-4_32. Adv Exp Med Biol. 2018. PMID: 30578505 Review.
Usher syndrome is the most common syndromic cause of retinitis pigmentosa (RP) and accounts for 10-20% of cases of RP Inheritance is autosomal recessive, and the retinal dystrophy is usually rod-cone dystrophy (Figs. 32.1 and 32.2). These patients have RP wit …
Usher syndrome is the most common syndromic cause of retinitis pigmentosa (RP) and accounts for 10-20% of cases of RP Inheritance is autosom …
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 …
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y. Jiang F, et al. Invest Ophthalmol Vis Sci. 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. Invest Ophthalmol Vis Sci. 2016. PMID: 26780318
PURPOSE: Mutations in the ABCA4 gene are heterogeneous and somewhat ethnic specific and can result in autosomal recessive Stargardt disease (STGD1), cone or cone-rod dystrophy (CRD), and retinitis pigmentosa. The objective of this study was to determine the A …
PURPOSE: Mutations in the ABCA4 gene are heterogeneous and somewhat ethnic specific and can result in autosomal recessive Stargardt disease …
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.
Rod monochromatism (achromatopsia) is a congenital cone photoreceptor disorder, which is rare, affecting about 1 in 30,000 individuals. ...Complete achromatopsia: It occurs in about 4-10% of Pingelapese islanders, who live on one of the Eastern Caroline Islands of M …
Rod monochromatism (achromatopsia) is a congenital cone photoreceptor disorder, which is rare, affecting about 1 in 30,000 individual …
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 …
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.
Fovea centralis, located at the center of the macula, is packed with cone photoreceptors and is responsible for central visual acuity. ...Vitreomacular interface (VMI) disorders including vitreomacular traction, posterior vitreous detachment, epiretinal membrane, and impen …
Fovea centralis, located at the center of the macula, is packed with cone photoreceptors and is responsible for central visual acuity …
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.
Dilated fundus examination revealed a higher percentage of vitreous cells (7.8% vs 0.5%; OR, 16.6; 95% CI, 5.0-55.2) and macular scars (4.6% vs 1.6%; OR, 2.8; 95% CI, 1.4-5.5) in survivors than in close contacts. Uveitis was present in 26.4% of survivors and …
Dilated fundus examination revealed a higher percentage of vitreous cells (7.8% vs 0.5%; OR, 16.6; 95% CI, 5.0-55.2) and macular scars (4 …
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 …
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.

RESULTS: Longitudinal analysis confirmed the progressive nature of optical gaps in patients with Stargardt disease, achromatopsia, occult macular dystrophy, and cone dystrophies (P < .003). Larger changes in gap width were noted in patients with Stargardt disease

…
RESULTS: Longitudinal analysis confirmed the progressive nature of optical gaps in patients with Stargardt disease, achromatopsia, occult ma …
PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.
Bianco L, Arrigo A, Antropoli A, Saladino A, Spiga I, Patricelli MG, Bandello F, Carrera P, Battaglia Parodi M. Bianco L, et al. Ophthalmol Retina. 2023 May;7(5):450-461. doi: 10.1016/j.oret.2022.12.008. Epub 2022 Dec 21. Ophthalmol Retina. 2023. PMID: 36563963
PURPOSE: A broad spectrum of autosomal-dominant inherited retinal diseases (IRDs), ranging from mild macular pattern dystrophy to severe cone-rod degeneration, is associated with PRPH2 variants (peripherinopathies). ...Their age at presentation had a median of 48 ye …
PURPOSE: A broad spectrum of autosomal-dominant inherited retinal diseases (IRDs), ranging from mild macular pattern dystrophy to sev …
345 results