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Quoted phrase not found in phrase index: "Nystagmus 5, congenital, X-linked"
Page 1
Nystagmus in childhood.
Papageorgiou E, McLean RJ, Gottlob I. Papageorgiou E, et al. Pediatr Neonatol. 2014 Oct;55(5):341-51. doi: 10.1016/j.pedneo.2014.02.007. Epub 2014 Jul 31. Pediatr Neonatol. 2014. PMID: 25086850 Free article. Review.
Nystagmus can be grouped into infantile nystagmus (IN), which usually appears in the first 3-6 months of life, and acquired nystagmus (AN), which appears later. ...Recent advances in the field of genetics have identified the FRMD7 gene as the major cause of h …
Nystagmus can be grouped into infantile nystagmus (IN), which usually appears in the first 3-6 months of life, and acquired …
Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
Zi F, Li Z, Cheng W, Huang X, Sheng X, Rong W. Zi F, et al. BMC Med Genomics. 2023 Sep 25;16(1):223. doi: 10.1186/s12920-023-01665-x. BMC Med Genomics. 2023. PMID: 37749571 Free PMC article.
PURPOSE: To report novel pathogenic variants of X-linked genes in five Chinese families with early-onset high myopia (eoHM) by using whole-exome sequencing and analyzing the phenotypic features. METHODS: 5 probands with X-linked recessive …
PURPOSE: To report novel pathogenic variants of X-linked genes in five Chinese families with early-onset high myopia (e …
Bullous X linked retinoschisis: clinical features and prognosis.
Hinds AM, Fahim A, Moore AT, Wong SC, Michaelides M. Hinds AM, et al. Br J Ophthalmol. 2018 May;102(5):622-624. doi: 10.1136/bjophthalmol-2017-310593. Epub 2017 Aug 28. Br J Ophthalmol. 2018. PMID: 28848025
BACKGROUND/AIMS: A subset of patients with X linked retinoschisis (XLRS) have bullous schisis cavities in the peripheral retina. ...There was one eye with exudative retinal detachment. CONCLUSION: In XLRS, bullous schisis may be congenital or develop soon aft …
BACKGROUND/AIMS: A subset of patients with X linked retinoschisis (XLRS) have bullous schisis cavities in the peripheral retin …
Blue cone monochromatism.
Weiss AH, Biersdorf WR. Weiss AH, et al. J Pediatr Ophthalmol Strabismus. 1989 Sep-Oct;26(5):218-23. doi: 10.3928/0191-3913-19890901-04. J Pediatr Ophthalmol Strabismus. 1989. PMID: 2795409
Each of the four patients in this study had BCM proven by their having peak spectral sensitivities in the blue region of the visible spectrum (near 440 nm). Clinically, the diagnosis was suspected because of x-linked inheritance, the presence of acuities better than …
Each of the four patients in this study had BCM proven by their having peak spectral sensitivities in the blue region of the visible spectru …
Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus.
Zhao H, Huang XF, Zheng ZL, Deng WL, Lei XL, Xing DJ, Ye L, Xu SZ, Chen J, Zhang F, Yu XP, Jin ZB. Zhao H, et al. BMJ Open. 2016 Apr 1;6(4):e010649. doi: 10.1136/bmjopen-2015-010649. BMJ Open. 2016. PMID: 27036142 Free PMC article.
The aim of our study was to identify the genetic basis of both sporadic IN and X-linked IN. DESIGN: Prospective analysis. PATIENTS: Twenty Chinese patients, including 15 sporadic IN cases and 5 from X-linked IN families, were recruited and under …
The aim of our study was to identify the genetic basis of both sporadic IN and X-linked IN. DESIGN: Prospective analysis. PATI …
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.
Han R, Wang X, Wang D, Wang L, Yuan Z, Ying M, Li N. Han R, et al. Sci Rep. 2015 Jul 10;5:12031. doi: 10.1038/srep12031. Sci Rep. 2015. PMID: 26160353 Free PMC article.
However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by the G-protein coupled receptor 143 (GPR143) gene mutations. Mutations in the FERM domain-containing 7 (FRMD7) gene are responsible for the X-l …
However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by the G-protei …
Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.
Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV. Miraldi Utz V, et al. JAMA Ophthalmol. 2018 Apr 1;136(4):389-398. doi: 10.1001/jamaophthalmol.2018.0185. JAMA Ophthalmol. 2018. PMID: 29522070 Free PMC article.
IMPORTANCE: Congenital stationary night blindness (CSNB) implies a stable condition, with the major symptom being nyctalopia present at birth. ...Presenting symptoms and signs, the correlation of refractive error with electroretinography, and clinical evolution were analyz …
IMPORTANCE: Congenital stationary night blindness (CSNB) implies a stable condition, with the major symptom being nyctalopia present …
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.
Hu J, Liang D, Xue J, Liu J, Wu L. Hu J, et al. Mol Vis. 2011 Mar 12;17:715-22. Mol Vis. 2011. PMID: 21423867 Free PMC article.
PURPOSE: The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked congenital nystagmus and perform prenatal genetic diagnosis for their current pregnancy. ...A novel splicing mutation c.658+1 g&g …
PURPOSE: The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked …
Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism.
Kurent A, Brecelj J, Stirn-Kranjc B. Kurent A, et al. Eur J Ophthalmol. 2020 Jan;30(1):147-154. doi: 10.1177/1120672118818322. Epub 2018 Dec 12. Eur J Ophthalmol. 2020. PMID: 30541351
PURPOSE: To study electroretinograms in infantile nystagmus syndrome associated with idiopathic infantile nystagmus, optic nerve hypoplasia, and albinism. METHODS: A total of 30 children with idiopathic infantile nystagmus, 18 with optic nerve hypoplasia, and …
PURPOSE: To study electroretinograms in infantile nystagmus syndrome associated with idiopathic infantile nystagmus, optic ner …
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.
Michaud V, Defoort-Dhellemmes S, Drumare I, Pennamen P, Plaisant C, Lasseaux E, Arveiler B. Michaud V, et al. Ophthalmic Genet. 2019 Apr;40(2):161-164. doi: 10.1080/13816810.2019.1592201. Epub 2019 Apr 3. Ophthalmic Genet. 2019. PMID: 30942644
BACKGROUND: Congenital nystagmus is one of the most common neuro-ophthalmological disorders. X chromosome-linked forms are associated with pathogenic variants of the GPR143 and FRMD7 genes. MATERIALS AND METHODS: Patients' DNA was analyzed using a next-genera …
BACKGROUND: Congenital nystagmus is one of the most common neuro-ophthalmological disorders. X chromosome-linked forms are ass …
32 results