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Page 1
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP. Mendell JR, et al. Mol Ther. 2021 Feb 3;29(2):464-488. doi: 10.1016/j.ymthe.2020.12.007. Epub 2020 Dec 10. Mol Ther. 2021. PMID: 33309881 Free PMC article. Review.
Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases affect over 30 million Americans. For more than 30 years, hundreds of researchers have maintained that genetic modifications would provide effective treatments for many inherited human …
Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases affect over 30 million Americans. For more th …
Hereditary Retinal Dystrophy.
Hohman TC. Hohman TC. Handb Exp Pharmacol. 2017;242:337-367. doi: 10.1007/164_2016_91. Handb Exp Pharmacol. 2017. PMID: 28035529 Review.
These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies include treatments for: Leber's congenital amaurosis type 2, caused by mutations to RPE65, retinoid isomerohydrolase; choroideremia, caused by …
These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies in …
Cone rod dystrophies.
Hamel CP. Hamel CP. Orphanet J Rare Dis. 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. Orphanet J Rare Dis. 2007. PMID: 17270046 Free PMC article. Review.
CRD is characterized by primary cone involvement, or, sometimes, by concomitant loss of both cones and rods that explains the predominant symptoms of CRDs: decreased visual acuity, color vision defects, photoaversion and decreased sensitivity in the central v …
CRD is characterized by primary cone involvement, or, sometimes, by concomitant loss of both cones and rods that explains the predominant sy …
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D. Lenaers G, et al. Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. Orphanet J Rare Dis. 2012. PMID: 22776096 Free PMC article. Review.
CLINICAL DESCRIPTION: DOA patients usually suffer of moderate visual loss, associated with central or paracentral visual field deficits and color vision defects. The severity of the disease is highly variable, the visual acuity ranging from normal to legal bl …
CLINICAL DESCRIPTION: DOA patients usually suffer of moderate visual loss, associated with central or paracentral visual field deficits and …
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Solaki M, et al. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. ...
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual ac
Causes and consequences of inherited cone disorders.
Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP. Roosing S, et al. Prog Retin Eye Res. 2014 Sep;42:1-26. doi: 10.1016/j.preteyeres.2014.05.001. Epub 2014 May 22. Prog Retin Eye Res. 2014. PMID: 24857951 Review.
Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone dystrophy (COD), cone-rod dystrophy (CRD), color vision impairment, Star …
Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or retinal pigment epithelium underlying the …
Review of the main colour vision clinical assessment tests.
Fanlo Zarazaga A, Gutiérrez Vásquez J, Pueyo Royo V. Fanlo Zarazaga A, et al. Arch Soc Esp Oftalmol (Engl Ed). 2019 Jan;94(1):25-32. doi: 10.1016/j.oftal.2018.08.006. Epub 2018 Oct 22. Arch Soc Esp Oftalmol (Engl Ed). 2019. PMID: 30361001 Review. English, Spanish.
INTRODUCTION: Congenital colour vision deficiencies affect 8% of the male and 0.5% of the female population. The study of colour vision is a complex process due to several factors: the psychophysics of vision itself, the difficulty to establish mathematical m …
INTRODUCTION: Congenital colour vision deficiencies affect 8% of the male and 0.5% of the female population. The study of colour v
Newer therapeutic options for inherited retinal diseases: Gene and cell replacement therapy.
Battu R, Ratra D, Gopal L. Battu R, et al. Indian J Ophthalmol. 2022 Jul;70(7):2316-2325. doi: 10.4103/ijo.IJO_82_22. Indian J Ophthalmol. 2022. PMID: 35791112 Free PMC article. Review.
Inherited retinal diseases (IRD) are genotypically and phenotypically varied disorders that lead to progressive degeneration of the outer retina and the retinal pigment epithelium (RPE) eventually resulting in severe vision loss. Recent research and developments in gene th …
Inherited retinal diseases (IRD) are genotypically and phenotypically varied disorders that lead to progressive degeneration of the outer re …
The genetics of normal and defective color vision.
Neitz J, Neitz M. Neitz J, et al. Vision Res. 2011 Apr 13;51(7):633-51. doi: 10.1016/j.visres.2010.12.002. Epub 2010 Dec 15. Vision Res. 2011. PMID: 21167193 Free PMC article. Review.
For all their complexity, the biological processes responsible for color vision are more accessible than for many other neural systems. This is partly because of the wealth of genetic variations that affect color perception, both within and across species, an …
For all their complexity, the biological processes responsible for color vision are more accessible than for many other neural …
Molecular genetics of colour vision deficiencies.
Deeb SS. Deeb SS. Clin Exp Optom. 2004 Jul;87(4-5):224-9. doi: 10.1111/j.1444-0938.2004.tb05052.x. Clin Exp Optom. 2004. PMID: 15312026 Free article. Review.
A common single amino acid polymorphism (serine or alanine) at position 180 of the L-pigment plays an important role both in variation in normal colour vision and in the severity of colour vision defects. Blue cone monochromacy is a rare form of colour vis
A common single amino acid polymorphism (serine or alanine) at position 180 of the L-pigment plays an important role both in variation in no …
27 results