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Quoted phrase not found in phrase index: "Nystagmus, congenital, autosomal recessive"
Page 1
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K. Grønskov K, et al. Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. Orphanet J Rare Dis. 2007. PMID: 17980020 Free PMC article. Review.
The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. Clinical manifestations include various degrees of …
The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack of melanin production throughout life, while …
Ciliopathy: Alström Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35. Adv Exp Med Biol. 2018. PMID: 30578508 Review.
Alstrom syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure. Patients presen …
Alstrom syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, t …
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
de Freitas JL, Rezende Filho FM, Sallum JMF, França MC Jr, Pedroso JL, Barsottini OGP. de Freitas JL, et al. J Neurol Sci. 2020 Feb 15;409:116620. doi: 10.1016/j.jns.2019.116620. Epub 2019 Dec 6. J Neurol Sci. 2020. PMID: 31865189 Review.
These ophthalmological changes may precede the motor symptoms and include pigmentary retinal degeneration, ophthalmoplegia, optic atrophy, cataracts and nystagmus. Some ophthalmological abnormalities are more prevalent in specific forms of HSP. Considering that the diagnos …
These ophthalmological changes may precede the motor symptoms and include pigmentary retinal degeneration, ophthalmoplegia, optic atrophy, c …
Ocular manifestations of trichothiodystrophy.
Brooks BP, Thompson AH, Clayton JA, Chan CC, Tamura D, Zein WM, Blain D, Hadsall C, Rowan J, Bowles KE, Khan SG, Ueda T, Boyle J, Oh KS, DiGiovanna JJ, Kraemer KH. Brooks BP, et al. Ophthalmology. 2011 Dec;118(12):2335-42. doi: 10.1016/j.ophtha.2011.05.036. Epub 2011 Sep 28. Ophthalmology. 2011. PMID: 21959366 Free PMC article.
OBJECTIVE: Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient brittle hair and multisystem abnormalities. ...RESULTS: Developmental abnormalities included microcornea (44% TTD), microphthalmia (8% TTD, 14% XP/TTD), …
OBJECTIVE: Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient brittle hair an …
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).
Desir J, Abramowicz M. Desir J, et al. Orphanet J Rare Dis. 2008 Oct 15;3:28. doi: 10.1186/1750-1172-3-28. Orphanet J Rare Dis. 2008. PMID: 18922146 Free PMC article. Review.
The ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. They are apparent at birth or within the neonatal period and are indistinguishable from those character …
The ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred visio …
GNAT1 associated with autosomal recessive congenital stationary night blindness.
Naeem MA, Chavali VR, Ali S, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. Naeem MA, et al. Invest Ophthalmol Vis Sci. 2012 Mar 13;53(3):1353-61. doi: 10.1167/iovs.11-8026. Print 2012 Mar. Invest Ophthalmol Vis Sci. 2012. PMID: 22190596 Free PMC article.
PURPOSE: Congenital stationary night blindness is a nonprogressive retinal disorder manifesting as impaired night vision and is generally associated with other ocular symptoms, such as nystagmus, myopia, and strabismus. ...CONCLUSIONS: These data suggest that a homo …
PURPOSE: Congenital stationary night blindness is a nonprogressive retinal disorder manifesting as impaired night vision and is gener …
Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?
Rocca C, Tiberi L, Bargiacchi S, Palazzo V, Landini S, Marziali E, Caputo R, Tinelli F, Marchi V, Benedetto A, Pagliazzi A, Bacci GM. Rocca C, et al. Int J Mol Sci. 2022 Jul 15;23(14):7825. doi: 10.3390/ijms23147825. Int J Mol Sci. 2022. PMID: 35887175 Free PMC article.
Oculocutaneous albinism is an autosomal recessive disorder characterized by the presence of typical ocular features, such as foveal hypoplasia, iris translucency, hypopigmented fundus oculi and reduced pigmentation of skin and hair. ...
Oculocutaneous albinism is an autosomal recessive disorder characterized by the presence of typical ocular features, such as f …
Leber's congenital amaurosis.
De Laey JJ. De Laey JJ. Bull Soc Belge Ophtalmol. 1991;241:41-50. Bull Soc Belge Ophtalmol. 1991. PMID: 1840995 Review.
Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age of 6 months, a variable fundus aspect and an absent or extremely pathological ERG. ...Children with possible congenital Leber amauro …
Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age …
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
Mayer AK, Mahajnah M, Thomas MG, Cohen Y, Habib A, Schulze M, Maconachie GDE, AlMoallem B, De Baere E, Lorenz B, Traboulsi EI, Kohl S, Azem A, Bauer P, Gottlob I, Sharkia R, Wissinger B. Mayer AK, et al. Brain. 2019 Jun 1;142(6):1528-1534. doi: 10.1093/brain/awz098. Brain. 2019. PMID: 31009037 Free PMC article.
Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of inheritance. The patients showed normal electroretinography responses, no signs of albinism, and no …
Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an …
Ophthalmic features of Joubert syndrome.
Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA. Khan AO, et al. Ophthalmology. 2008 Dec;115(12):2286-9. doi: 10.1016/j.ophtha.2008.08.005. Ophthalmology. 2008. PMID: 19041481
PURPOSE: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malformation of the brainstem and cerebellar vermis. ...Our findings of asymmetric fVEPs and see-saw nystagmus suggest an abnormality in opt …
PURPOSE: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malform …
64 results