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Quoted phrase not found in phrase index: "Nystagmus 6, 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 cau …
Nystagmus can be grouped into infantile nystagmus (IN), which usually appears in the first 3-6 months of life, and acqu …
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. ...The most frequently associated ocular features were strabismus (100%), vitreous haemorrhage (4/18 eyes, 22%), nystagmus (2/9, 2 …
BACKGROUND/AIMS: A subset of patients with X linked retinoschisis (XLRS) have bullous schisis cavities in the peripheral retin …
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.
Two genes have been identified as mainly causing IN: FRMD7 and GPR143. The aim of our study was to identify the genetic basis of both sporadic IN and X-linked IN. ...PATIENTS: Twenty Chinese patients, including 15 sporadic IN cases and 5 from X-link …
Two genes have been identified as mainly causing IN: FRMD7 and GPR143. The aim of our study was to identify the genetic basis of both …
Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.
Choi JH, Jung JH, Oh EH, Shin JH, Kim HS, Seo JH, Choi SY, Kim MJ, Choi HY, Lee C, Choi KD. Choi JH, et al. Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. Invest Ophthalmol Vis Sci. 2018. PMID: 30025138
Most patients in the FRMD7 group had at least two types of the nystagmus waveforms, and the most common type was unidirectional jerk nystagmus (75%), such as pure jerk and jerk with extended foveation, followed by pendular (25%), bidirectional jerk (19%), and dual j …
Most patients in the FRMD7 group had at least two types of the nystagmus waveforms, and the most common type was unidirectional jerk …
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. ...RESULTS: Seven patients (5 [71.4%] female) presented early in childhood with strabismus (n = 6 [86%]), myopia (n = 5 [71 …
IMPORTANCE: Congenital stationary night blindness (CSNB) implies a stable condition, with the major symptom being nyctalopia present …
High- and Low-contrast Letter Acuity during Image Motion in Normal Observers and Observers with Infantile Nystagmus Syndrome.
Bedell HE, Song S. Bedell HE, et al. Optom Vis Sci. 2021 Feb 1;98(2):150-158. doi: 10.1097/OPX.0000000000001643. Optom Vis Sci. 2021. PMID: 33534376 Free PMC article.
SIGNIFICANCE: High-contrast acuity in individuals with infantile nystagmus syndrome (INS) is poorer than expected from their ongoing retinal image motion, indicating a sensory loss. ...Normal observers viewed each chart after reflection from a front-surface mirror that und …
SIGNIFICANCE: High-contrast acuity in individuals with infantile nystagmus syndrome (INS) is poorer than expected from their ongoing …
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
Thomas S, Proudlock FA, Sarvananthan N, Roberts EO, Awan M, McLean R, Surendran M, Kumar AS, Farooq SJ, Degg C, Gale RP, Reinecke RD, Woodruff G, Langmann A, Lindner S, Jain S, Tarpey P, Raymond FL, Gottlob I. Thomas S, et al. Brain. 2008 May;131(Pt 5):1259-67. doi: 10.1093/brain/awn046. Epub 2008 Mar 27. Brain. 2008. PMID: 18372314
Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. ...Fewer patients in the FRMD7 group had AHPs, their amplitude of nystagmus being lower in primary position. Our finding …
Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X- …
Clinical evaluation of graded Anderson's procedure in idiopathic infantile nystagmus.
Ganesh SC, Rao SG, Narendran K. Ganesh SC, et al. Strabismus. 2019 Sep;27(3):139-142. doi: 10.1080/09273972.2019.1632906. Epub 2019 Jun 20. Strabismus. 2019. PMID: 31216911
Aim: To study the efficacy of graded, bilateral, single, horizontal yoked rectus muscle recession for correction of anomalous head posture (AHP) in idiopathic infantile nystagmus (IIN). We hypothesize that the above procedure would sufficiently correct AHP in IIN. ...Visua …
Aim: To study the efficacy of graded, bilateral, single, horizontal yoked rectus muscle recession for correction of anomalous head posture ( …
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium; Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. Vincent A, et al. Am J Hum Genet. 2016 May 5;98(5):1011-1019. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7. Am J Hum Genet. 2016. PMID: 27063057 Free PMC article.
Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. ...Both subtypes are associated with variable degrees of night blindness or photophobia, reduced …
Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteris …
Can Structural Grading of Foveal Hypoplasia Predict Future Vision in Infantile Nystagmus?: A Longitudinal Study.
Rufai SR, Thomas MG, Purohit R, Bunce C, Lee H, Proudlock FA, Gottlob I. Rufai SR, et al. Ophthalmology. 2020 Apr;127(4):492-500. doi: 10.1016/j.ophtha.2019.10.037. Epub 2019 Nov 4. Ophthalmology. 2020. PMID: 31937464 Free PMC article.
PURPOSE: To evaluate structural grading and quantitative segmentation of foveal hypoplasia using handheld OCT, versus preferential looking (PL), as predictors of future vision in preverbal children with infantile nystagmus. DESIGN: Longitudinal cohort study. PARTICIPANTS: …
PURPOSE: To evaluate structural grading and quantitative segmentation of foveal hypoplasia using handheld OCT, versus preferential looking ( …
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