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Infantile nystagmus syndrome

MedGen UID:
735807
•Concept ID:
C1533172
•
Disease or Syndrome
Synonym: INS - infantile nystagmus syndrome
SNOMED CT: Infantile nystagmus syndrome (414489005); INS - infantile nystagmus syndrome (414489005)

Professional guidelines

PubMed

Genetic testing for infantile nystagmus syndrome with or without associated findings.
Cavuoto KM, Binenbaum G, Chang MY, Heidary G, Morrison DG, Trivedi RH, Kim SJ, Pineles SL
J AAPOS 2023 Oct;27(5):259-264. Epub 2023 Sep 16 doi: 10.1016/j.jaapos.2023.07.007. PMID: 37717615Free PMC Article
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
Invest Ophthalmol Vis Sci 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. PMID: 30025138
Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management.
Richards MD, Wong A
Can J Ophthalmol 2015 Dec;50(6):400-8. doi: 10.1016/j.jcjo.2015.07.010. PMID: 26651297

Recent clinical studies

Etiology

Perception of Coherent Motion in Infantile Nystagmus Syndrome.
Dai B, Cham KM, Abel LA
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):31. doi: 10.1167/iovs.63.1.31. PMID: 35072688Free PMC Article
Velocity Discrimination in Infantile Nystagmus Syndrome.
Dai B, Cham KM, Abel LA
Invest Ophthalmol Vis Sci 2021 Aug 2;62(10):35. doi: 10.1167/iovs.62.10.35. PMID: 34459850Free PMC Article
Surgical interventions for infantile nystagmus syndrome.
Cham KM, Abel LA, Busija L, Kowal L, Bachar Zipori A, Downie LE
Cochrane Database Syst Rev 2021 Feb 18;2(2):CD013390. doi: 10.1002/14651858.CD013390.pub2. PMID: 33598911Free PMC Article
Consecutive strabismus after infantile nystagmus syndrome surgery and potential risk factors.
Gómez-Mariscal M, Hernández-Martínez P, Rodríguez-Del Valle JM, Ruiz-Guerrero M, Márquez-González C, Rodríguez-Sánchez JM
Graefes Arch Clin Exp Ophthalmol 2020 Jul;258(7):1549-1554. Epub 2020 Apr 20 doi: 10.1007/s00417-020-04686-9. PMID: 32307586
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
Invest Ophthalmol Vis Sci 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. PMID: 30025138

Diagnosis

Genetic testing for infantile nystagmus syndrome with or without associated findings.
Cavuoto KM, Binenbaum G, Chang MY, Heidary G, Morrison DG, Trivedi RH, Kim SJ, Pineles SL
J AAPOS 2023 Oct;27(5):259-264. Epub 2023 Sep 16 doi: 10.1016/j.jaapos.2023.07.007. PMID: 37717615Free PMC Article
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
Invest Ophthalmol Vis Sci 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. PMID: 30025138
Nystagmus.
Tarnutzer AA, Straumann D
Curr Opin Neurol 2018 Feb;31(1):74-80. doi: 10.1097/WCO.0000000000000517. PMID: 29120919
Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management.
Richards MD, Wong A
Can J Ophthalmol 2015 Dec;50(6):400-8. doi: 10.1016/j.jcjo.2015.07.010. PMID: 26651297
The diagnosis and treatment of infantile nystagmus syndrome (INS).
Khanna S, Dell'Osso LF
ScientificWorldJournal 2006 Oct 30;6:1385-97. doi: 10.1100/tsw.2006.248. PMID: 17086344Free PMC Article

Therapy

Effects of Topical Brinzolamide on Infantile Nystagmus Syndrome Waveforms: Eyedrops for Nystagmus: Erratum.
J Neuroophthalmol 2023 Dec 1;43(4):e363. doi: 10.1097/WNO.0000000000001992. PMID: 37974371
Surgical interventions for infantile nystagmus syndrome.
Cham KM, Abel LA, Busija L, Kowal L, Bachar Zipori A, Downie LE
Cochrane Database Syst Rev 2021 Feb 18;2(2):CD013390. doi: 10.1002/14651858.CD013390.pub2. PMID: 33598911Free PMC Article
Consecutive strabismus after infantile nystagmus syndrome surgery and potential risk factors.
Gómez-Mariscal M, Hernández-Martínez P, Rodríguez-Del Valle JM, Ruiz-Guerrero M, Márquez-González C, Rodríguez-Sánchez JM
Graefes Arch Clin Exp Ophthalmol 2020 Jul;258(7):1549-1554. Epub 2020 Apr 20 doi: 10.1007/s00417-020-04686-9. PMID: 32307586
Saccades under Mental Load in Infantile Nystagmus Syndrome and Controls.
Salehi Fadardi M, Abel LA
Optom Vis Sci 2018 Apr;95(4):373-383. doi: 10.1097/OPX.0000000000001194. PMID: 29561505
Nystagmus in infancy and childhood: characteristics and evidence for treatment.
Hertle RW
Am Orthopt J 2010;60:48-58. doi: 10.3368/aoj.60.1.48. PMID: 21061884

Prognosis

Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome.
Choi JH, Kim SJ, Thomas MG, Jung JH, Oh EH, Shin JH, Cho JW, Kim HS, Park JY, Choi SY, Choi HY, Choi KD
Ophthalmic Genet 2021 Oct;42(5):561-569. Epub 2021 Jun 16 doi: 10.1080/13816810.2021.1938138. PMID: 34132631
Consecutive strabismus after infantile nystagmus syndrome surgery and potential risk factors.
Gómez-Mariscal M, Hernández-Martínez P, Rodríguez-Del Valle JM, Ruiz-Guerrero M, Márquez-González C, Rodríguez-Sánchez JM
Graefes Arch Clin Exp Ophthalmol 2020 Jul;258(7):1549-1554. Epub 2020 Apr 20 doi: 10.1007/s00417-020-04686-9. PMID: 32307586
Infantile nystagmus syndrome is associated with inefficiency of goal-directed hand movements.
Liebrand-Schurink J, Cox RF, van Rens GH, Cillessen AH, Meulenbroek RG, Boonstra FN
Invest Ophthalmol Vis Sci 2014 Dec 23;56(1):552-62. doi: 10.1167/iovs.14-15265. PMID: 25537205
Monocular and binocular development in children with albinism, infantile nystagmus syndrome, and normal vision.
Huurneman B, Boonstra FN
Strabismus 2013 Dec;21(4):216-24. Epub 2013 Nov 6 doi: 10.3109/09273972.2013.833954. PMID: 24195763
The diagnosis and treatment of infantile nystagmus syndrome (INS).
Khanna S, Dell'Osso LF
ScientificWorldJournal 2006 Oct 30;6:1385-97. doi: 10.1100/tsw.2006.248. PMID: 17086344Free PMC Article

Clinical prediction guides

Infantile nystagmus syndrome: An observational, retrospective, multicenter study.
Fossataro C, Pafundi PC, Mattei R, Cima V, De Rossi F, Savino G
Optom Vis Sci 2024 Apr 1;101(4):211-223. doi: 10.1097/OPX.0000000000002131. PMID: 38684064
Visual search in infantile nystagmus syndrome.
Dai B, Cham KM, Abel LA
Clin Exp Optom 2024 Aug;107(6):641-648. Epub 2023 Oct 17 doi: 10.1080/08164622.2023.2260805. PMID: 37848183
Eye movements elevate crowding in idiopathic infantile nystagmus syndrome.
Tailor VK, Theodorou M, Dahlmann-Noor AH, Dekker TM, Greenwood JA
J Vis 2021 Dec 1;21(13):9. doi: 10.1167/jov.21.13.9. PMID: 34935877Free PMC Article
Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome.
Choi JH, Kim SJ, Thomas MG, Jung JH, Oh EH, Shin JH, Cho JW, Kim HS, Park JY, Choi SY, Choi HY, Choi KD
Ophthalmic Genet 2021 Oct;42(5):561-569. Epub 2021 Jun 16 doi: 10.1080/13816810.2021.1938138. PMID: 34132631
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
Invest Ophthalmol Vis Sci 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. PMID: 30025138

Recent systematic reviews

Surgical interventions for infantile nystagmus syndrome.
Cham KM, Abel LA, Busija L, Kowal L, Bachar Zipori A, Downie LE
Cochrane Database Syst Rev 2021 Feb 18;2(2):CD013390. doi: 10.1002/14651858.CD013390.pub2. PMID: 33598911Free PMC Article

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