{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T05:29:52Z","timestamp":1734499792707,"version":"3.30.2"},"reference-count":17,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T00:00:00Z","timestamp":1704412800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>ABSTRACT:<\/jats:title><jats:sec id=\"S0317167124000027_as1\"><jats:title>Background:<\/jats:title><jats:p>Optic nerve hypoplasia (ONH) and septo-optic-pituitary dysplasia (SOD) are neurodevelopmental disorders associated with congenital visual impairment. Our aim was to investigate associations between several ophthalmic and neuroimaging features in patients with ONH\/SOD.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167124000027_as2\"><jats:title>Methods:<\/jats:title><jats:p>A retrospective chart and neuroimaging review was performed in patients with ONH\/SOD. Ophthalmic signs (e.g., monocular best-corrected visual acuity [BCVA], nystagmus, and strabismus) and neuroimaging data were extracted and their associations were investigated.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167124000027_as3\"><jats:title>Results:<\/jats:title><jats:p>There were 128 patients (70 males) with ONH\/SOD who had neuroimaging. Their mean age at the end of the study was 13.2 (<jats:italic>SD<\/jats:italic>: 7.5) years. Ophthalmic data were available on 102 patients (58 males). BCVA varied from normal to no light perception. There were statistically significant associations between: (A) Reduced optic nerve or chiasm size on neuroimaging and more severely impaired BCVA and (B) laterality of the reduced optic nerve or chiasm size on neuroimaging and laterality of: (1) The eye with reduced BCVA, (2) small optic disc size, and (3) RAPD, if present (<jats:italic>p<\/jats:italic> \u2264 0.0002 each). The presence of symmetrically small optic nerves on MRI was significantly more common in patients with nystagmus than when nystagmus was absent (<jats:italic>N<\/jats:italic> = 96, 75% vs. 38.6%, <jats:italic>p<\/jats:italic> &lt; 0.0001). The presence of neuronal migration disorders, their type and laterality were not associated with BCVA and laterality of the reduced BCVA.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167124000027_as4\"><jats:title>Conclusion:<\/jats:title><jats:p>The functional and structural associations in ONH are consistent with the impaired visual function that results from the hypoplastic anterior visual pathways. However, these associations were not perfectly concordant making prediction of adult BCVA challenging in these patients.<\/jats:p><\/jats:sec>","DOI":"10.1017\/cjn.2024.2","type":"journal-article","created":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T08:01:34Z","timestamp":1704441694000},"page":"672-678","source":"Crossref","is-referenced-by-count":0,"title":["Ophthalmic and Neuroimaging Associations In Optic Nerve Hypoplasia\/Septo-Optic-Pituitary Dysplasia"],"prefix":"10.1017","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0564-7044","authenticated-orcid":false,"given":"Michael S.","family":"Salman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shakhawat","family":"Hossain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Carson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian H.","family":"Clark","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katya","family":"Rozovsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2024,1,5]]},"reference":[{"key":"S0317167124000027_ref9","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1038\/s41433-021-01535-9","article-title":"Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study","volume":"36","author":"Yu-Wai-Man","year":"2021","journal-title":"Eye (Lond)"},{"key":"S0317167124000027_ref10","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1016\/j.jaapos.2012.05.012","article-title":"Newborn thyroid-stimulating hormone in children with optic nerve hypoplasia: associations with hypothyroidism and vision","volume":"16","author":"Fink","year":"2012","journal-title":"J AAPOS"},{"key":"S0317167124000027_ref14","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1001\/archopht.1993.01090010070029","article-title":"Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging","volume":"111","author":"Brodsky","year":"1993","journal-title":"Arch Ophthalmol"},{"key":"S0317167124000027_ref8","doi-asserted-by":"crossref","first-page":"662838","DOI":"10.3389\/fneur.2021.662838","article-title":"Intravitreal gene therapy vs. natural history in patients with Leber hereditary optic neuropathy carrying the m.11778G>A ND4 mutation: systematic review and indirect comparison","volume":"12","author":"Newman","year":"2021","journal-title":"Front Neurol"},{"key":"S0317167124000027_ref1","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1007\/s11940-012-0209-2","article-title":"Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations","volume":"15","author":"Garcia-Filion","year":"2013","journal-title":"Curr Treat Options Neurol"},{"key":"S0317167124000027_ref3","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1111\/j.1755-3768.2008.01450.x","article-title":"Optic nerve hypoplasia in North America: a re-appraisal of perinatal risk factors","volume":"88","author":"Garcia-Filion","year":"2010","journal-title":"Acta Ophthalmol"},{"key":"S0317167124000027_ref12","first-page":"1","article-title":"Neuroimaging features in children with optic nerve hypoplasia and septo-optic-pituitary dysplasia","author":"Salman","year":"2023","journal-title":"Can J Neurol Sci"},{"key":"S0317167124000027_ref13","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1111\/dmcn.15678","article-title":"Risk factors in children with optic nerve hypoplasia and septo-optic dysplasia","volume":"66","author":"Salman","year":"2023","journal-title":"Dev Med Child Neurol"},{"key":"S0317167124000027_ref6","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1111\/j.1469-8749.2012.04404.x","article-title":"Septo-optic dysplasia in childhood: the neurological, cognitive and neuro-ophthalmological perspective","volume":"54","author":"Signorini","year":"2012","journal-title":"Dev Med Child Neurol"},{"key":"S0317167124000027_ref15","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1136\/bjophthalmol-2017-310763","article-title":"Neuroimaging and endocrine disorders in paediatric optic nerve hypoplasia","volume":"102","author":"Qian","year":"2018","journal-title":"Br J Ophthalmol"},{"key":"S0317167124000027_ref11","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.pediatrneurol.2023.09.018","article-title":"Visual acuity outcomes in children with optic nerve hypoplasia and septo-optic-pituitary dysplasia","volume":"149","author":"Salman","year":"2023","journal-title":"Pediatr Neurol"},{"key":"S0317167124000027_ref16","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1136\/bjophthalmol-2019-315524","article-title":"Orbital MRI versus fundus photography in the diagnosis of optic nerve hypoplasia and prediction of vision","volume":"104","author":"Kruglyakova","year":"2020","journal-title":"Br J Ophthalmol"},{"key":"S0317167124000027_ref7","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.jpeds.2004.06.041","article-title":"Optic nerve size evaluated by magnetic resonance imaging in children with optic nerve hypoplasia, multiple pituitary hormone deficiency, isolated growth hormone deficiency, and idiopathic short stature","volume":"145","author":"Birkebaek","year":"2004","journal-title":"J Pediatr"},{"key":"S0317167124000027_ref2","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1093\/pch\/pxx118","article-title":"Increasing incidence of optic nerve hypoplasia\/septo-optic dysplasia spectrum: geographic clustering in Northern Canada","volume":"22","author":"Khaper","year":"2017","journal-title":"Paediatr Child Health"},{"key":"S0317167124000027_ref17","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1097\/WNO.0b013e31824442b8","article-title":"Reappraisal of the optic nerve hypoplasia syndrome","volume":"32","author":"Borchert","year":"2012","journal-title":"J Neuroophthalmol"},{"key":"S0317167124000027_ref4","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/477","article-title":"Mutations in the homeobox gene HESX1\/Hesx1 associated with septo-optic dysplasia in human and mouse","volume":"19","author":"Dattani","year":"1998","journal-title":"Nat Genet"},{"key":"S0317167124000027_ref5","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1080\/01658107.2022.2077967","article-title":"Selected ophthalmological features in children with septo-optic dysplasia and optic nerve hypoplasia","volume":"46","author":"Salman","year":"2022","journal-title":"Neuroophthalmology"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences 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