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Ophthalmic and Neuroimaging Associations In Optic Nerve Hypoplasia/Septo-Optic-Pituitary Dysplasia

Published online by Cambridge University Press:  05 January 2024

Michael S. Salman Open the ORCID record for Michael S. Salman [Opens in a new window] ,
Shakhawat Hossain ,
Elizabeth Carson ,
Ian H. Clark  and
Katya Rozovsky
Michael S. Salman*
Affiliation:
Section of Pediatric Neurology, Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada
Shakhawat Hossain
Affiliation:
Department of Mathematics and Statistics, University of Winnipeg, Winnipeg, MB, Canada
Elizabeth Carson
Affiliation:
Pediatric Ophthalmology, Children’s Hospital, Health Science Centre, Winnipeg, MB, Canada
Ian H. Clark
Affiliation:
Section of Pediatric Ophthalmology, Department of Ophthalmology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada
Katya Rozovsky
Affiliation:
Section of Pediatric Radiology, Department of Radiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada
*
Corresponding author: M. S. Salman; Email: msalman@hsc.mb.ca
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Abstract:

Background:

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.

Methods:

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.

Results:

There were 128 patients (70 males) with ONH/SOD who had neuroimaging. Their mean age at the end of the study was 13.2 (SD: 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 (p ≤ 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 (N = 96, 75% vs. 38.6%, p < 0.0001). The presence of neuronal migration disorders, their type and laterality were not associated with BCVA and laterality of the reduced BCVA.

Conclusion:

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.

Résumé :

RÉSUMÉ :

Associations observées en ophtalmologie et en neuro-imagerie dans l’hypoplasie du nerf optique et la dysplasie septo-optique accompagnée d’hypopituitarisme.

Contexte :

L’hypoplasie du nerf optique (HNO) et la dysplasie septo-optique (DSO) accompagnée d’hypopituitarisme sont des troubles neurodéveloppementaux associés à une déficience visuelle congénitale. L’étude visait à examiner les associations entre différentes caractéristiques ophtalmiques et en neuro-imagerie chez des patients atteints d’HNO et de DSO.

Méthode :

L’étude consistait en un examen rétrospectif de dossiers de patients atteints d’HNO et de DSO, et de caractéristiques observées en neuro-imagerie. Il y a d’abord eu une extraction de données sur des signes ophtalmiques (ex. : acuité visuelle corrigée maximale [AVCM) en monoculaire, nystagmus, strabisme) et en neuro-imagerie, puis une analyse d’associations.

Résultats :

L’équipe disposait de données en neuro-imagerie sur 128 patients (70 hommes) atteints d’HNO et de DSO. Leur âge moyen à la fin de l’étude était de 13,2 ans (écart-type : 7,5). Quant aux données en ophtalmologie, elles concernaient 102 patients (58 hommes). L’AVCM variait de normale à l’absence de perception de la lumière. Des associations statistiquement significatives ont été établies entre : A) une diminution de la grosseur du nerf optique ou du chiasma optique, observée en neuro-imagerie et le degré de gravité de la diminution de l’AVCM; et B) la latéralité de la diminution de la grosseur du nerf optique ou du chiasma optique, observée en neuro-imagerie et la latéralité : 1) de l’œil ayant une diminution de l’AVCM; 2) de la petite surface de la papille optique; et 3) du déficit pupillaire afférent relatif, si DPAR il y avait (p ≤ 0,0002 chacun). La présence d’une diminution symétrique des nerfs optiques à l’IRM était significativement plus fréquente dans les cas de nystagmus que dans les cas d’absence de nystagmus (N = 96; 75 % contre 38,6 %; p < 0,0001). Par contre, il n’y avait pas d’association entre la présence de troubles de la migration neuronale, leur type et leur latéralité, et l’AVCM et la latéralité de la diminution de l’AVCM.

Conclusion :

Les associations établies entre les structures et leur fonctionnement dans l’HNO sont compatibles avec la déficience visuelle qui résulte de l’hypoplasie des voies visuelles antérieures. Toutefois, la concordance de ces associations n’était tout pas fait parfaite, ce qui rend difficiles les prévisions relatives à l’AVCM à l’âge adulte chez ces patients.

Keywords

VisionMRIPituitary glandSeptum pellucidumNeuronal migration disorders
Type
Original Article
Information
Canadian Journal of Neurological Sciences , First View , pp. 1 - 7
Copyright
© The Author(s), 2024. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation

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References

Garcia-Filion, P, Borchert, M. Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. Curr Treat Options Neurol. 2013;15:78–89.CrossRefGoogle ScholarPubMed
Khaper, T, Bunge, M, Clark, I, et al. Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: geographic clustering in Northern Canada. Paediatr Child Health. 2017;22:445–53.CrossRefGoogle ScholarPubMed
Garcia-Filion, P, Fink, C, Geffner, ME, Borchert, M. Optic nerve hypoplasia in North America: a re-appraisal of perinatal risk factors. Acta Ophthalmol. 2010;88:527–34.CrossRefGoogle ScholarPubMed
Dattani, MT, Martinez-Barbera, JP, Thomas, PQ, et al. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet. 1998;19:125–33.CrossRefGoogle ScholarPubMed
Salman, MS, Hossain, S, Carson, E, Ruth, CA, Clark, IH. Selected ophthalmological features in children with septo-optic dysplasia and optic nerve hypoplasia. Neuroophthalmology. 2022;46:367–74.CrossRefGoogle ScholarPubMed
Signorini, SG, Decio, A, Fedeli, C, et al. Septo-optic dysplasia in childhood: the neurological, cognitive and neuro-ophthalmological perspective. Dev Med Child Neurol. 2012;54:1018–24.CrossRefGoogle ScholarPubMed
Birkebaek, NH, Patel, L, Wright, NB, et al. 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. J Pediatr. 2004;145:536–41.CrossRefGoogle ScholarPubMed
Newman, NJ, Yu-Wai-Man, P, Carelli, V, et al. 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. Front Neurol. 2021;12:662838.CrossRefGoogle ScholarPubMed
Yu-Wai-Man, P, Newman, NJ, Carelli, V, LHON REALITY Study Group, et al. Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study. Eye (Lond). 2021;36:818–26. DOI: 10.1038/s41433-021-01535-9.CrossRefGoogle ScholarPubMed
Fink, C, Vedin, AM, Garcia-Filion, P, Ma, NS, Geffner, ME, Borchert, M. Newborn thyroid-stimulating hormone in children with optic nerve hypoplasia: associations with hypothyroidism and vision. J AAPOS. 2012;16:418–23.CrossRefGoogle ScholarPubMed
Salman, MS, Hossain, S, Carson, E, et al. Visual acuity outcomes in children with optic nerve hypoplasia and septo-optic-pituitary dysplasia. Pediatr Neurol. 2023;149:167–75. DOI: 10.1016/j.pediatrneurol.2023.09.018.CrossRefGoogle Scholar
Salman, MS, Hossain, S, Rozovsky, K,. Neuroimaging features in children with optic nerve hypoplasia and septo-optic-pituitary dysplasia. Can J Neurol Sci. 2023:1–9. DOI: 10.1017/cjn.2023.263.Google ScholarPubMed
Salman, MS, Ruth, CA, Yogendran, MS, Rozovsky, K, Lix, LM. Risk factors in children with optic nerve hypoplasia and septo-optic dysplasia. Dev Med Child Neurol. 2023;66:106–16. DOI: 10.1111/dmcn.15678.CrossRefGoogle ScholarPubMed
Brodsky, MC, Glasier, CM. Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging. Arch Ophthalmol. 1993;111:66–74.CrossRefGoogle ScholarPubMed
Qian, X, Fouzdar Jain, S, Morgan, LA, Kruse, T, Cabrera, M, Suh, DW. Neuroimaging and endocrine disorders in paediatric optic nerve hypoplasia. Br J Ophthalmol. 2018;102:906–10.CrossRefGoogle ScholarPubMed
Kruglyakova, J, Garcia-Filion, P, Nelson, M, Borchert, M. Orbital MRI versus fundus photography in the diagnosis of optic nerve hypoplasia and prediction of vision. Br J Ophthalmol. 2020;104:1458–61.CrossRefGoogle ScholarPubMed
Borchert, M. Reappraisal of the optic nerve hypoplasia syndrome. J Neuroophthalmol. 2012;32:58–67.CrossRefGoogle ScholarPubMed