{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T16:19:12Z","timestamp":1792081152850,"version":"4.4.0"},"reference-count":30,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,5,29]],"date-time":"2022-05-29T00:00:00Z","timestamp":1653782400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>To analyse the neuro\u2010ophthalmological data of children referred for further work\u2010up of infantile nystagmus where ophthalmological evaluation had not achieved a diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We retrospectively reviewed medical records of patients presenting with infantile nystagmus at our institution between 2007 and 2019. Inclusion criteria were onset before 6 months of age, availability of complete ophthalmic examination, visual electrophysiological tests, and neurological examination. Children with a previous definite ophthalmological diagnosis at onset and those with uncertain nystagmus onset age were not recruited.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Out of 142 infants (mean age at nystagmus onset 3.6 mo, SD 1.7, range 0\u20136 mo; 56 females, 86 males), 23% had neurological nystagmus, 7% mixed neurological and sensory nystagmus, 48% sensory defect, and 22% idiopathic infantile nystagmus. The neurological diagnoses were inborn errors of metabolism, white matter genetic disorders, and brain malformations. The prevalent diagnosis in the sensory defect subgroup was retinal dystrophy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Infantile nystagmus without diagnostic ocular findings may be due to neurological, retinal, and optic nerve disorders or be a benign idiopathic condition.\u00a0In infants with and without neurological abnormalities, the search for a sensory defect should include visual electrophysiology performed early in the diagnostic pathway.<\/jats:p><\/jats:sec><jats:sec><jats:title>What this paper adds<\/jats:title><jats:p>\n<jats:list list-type=\"bullet\">\n\n<jats:list-item><jats:p>Infantile nystagmus without diagnostic ophthalmological signs has an underlying neurological cause in 30% of cases.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Neurological diagnoses include congenital brain malformations, and metabolic and genetic disorders.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Sensory defects are part of systemic neurological disorders in 23% of infants.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Electrophysiology is useful when ophthalmological examination is uninformative.<\/jats:p><\/jats:list-item>\n<\/jats:list>\n<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.15284","type":"journal-article","created":{"date-parts":[[2022,5,29]],"date-time":"2022-05-29T13:54:50Z","timestamp":1653832490000},"page":"1532-1538","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Infantile nystagmus without overt eye abnormality: Early features and neuro\u2010ophthalmological diagnosis"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5130-1450","authenticated-orcid":false,"given":"Agnese","family":"Suppiej","sequence":"first","affiliation":[{"name":"Department of Medical Sciences, Paediatric Section University of Ferrara  Ferrara Italy"},{"name":"Robert Hollman Foundation  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Ceccato","sequence":"additional","affiliation":[{"name":"Robert Hollman Foundation  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Lonardi","sequence":"additional","affiliation":[{"name":"Robert Hollman Foundation  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria E.","family":"Reffo","sequence":"additional","affiliation":[{"name":"Robert Hollman Foundation  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,5,29]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Diseases of the nervous system in childhood","author":"Aicardi J","year":"1992"},{"key":"e_1_2_8_3_1","first-page":"1","article-title":"Nystagmus and Related Ocular Motility Disorders","volume":"2","author":"Leigh RJ","year":"2005","journal-title":"Walsh Hoyt\u2019s Clin Neuro\u2010Ophthalmology."},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.76.7.434"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2014.02.007"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2017.07.006"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.14354"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0420.2006.00717.x"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(93)90105-L"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0039-6257(89)90101-X"},{"key":"e_1_2_8_11_1","doi-asserted-by":"crossref","unstructured":"BancA UngureanuMI.Normative data for optical coherence tomography in children: a systematic review. Eye [Internet].2020; Available from:https:\/\/doi.org\/10.1038\/s41433\u2010020\u201001177\u20103","DOI":"10.1038\/s41433-020-01177-3"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-014-9473-7"},{"key":"e_1_2_8_13_1","first-page":"111","volume-title":"Neonatal And Pediatric Clinical Neurophysiology","author":"Suppiej A.","year":"2007"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2021.01.003"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812453322"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-012-1006-z"},{"key":"e_1_2_8_17_1","doi-asserted-by":"crossref","unstructured":"HertleR.A Classification of Eye Movement Abnormalities and Strabismus (CEMAS).2001;","DOI":"10.1097\/00006324-200112001-00242"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2016.1266667"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.2307\/1127757"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1177\/026461969701500305"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2003.10.011"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.73.7.512"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-012-9315-4"},{"issue":"9","key":"e_1_2_8_24_1","first-page":"1783","article-title":"Visual evoked potentials with crossed asymmetry in incomplete congenital stationary night blindness","volume":"37","author":"Tremblay F","year":"1996","journal-title":"Investig Ophthalmol Vis Sci"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.002"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2012.02.010"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.12250"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000058"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu122"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep12031"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22031130"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.15284","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/dmcn.15284","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.15284","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T21:38:06Z","timestamp":1692481086000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dmcn.15284"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,29]]},"references-count":30,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1111\/dmcn.15284"],"URL":"https:\/\/doi.org\/10.1111\/dmcn.15284","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,29]]},"assertion":[{"value":"2021-08-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}