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Optic Nerve Hypoplasia: A Retrospective Analysis of Clinical Presentation and Disease Severity

Authors Netzel AN, High R, Suh DW

Received 2 August 2019

Accepted for publication 28 November 2019

Published 30 December 2019 Volume 2019:13 Pages 2607—2616

DOI https://doi.org/10.2147/OPTH.S225731

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Dr Scott Fraser


Audrey N Netzel,1 Robin High,2 Donny W Suh3

1Creighton University School of Medicine, Omaha, Nebraska, USA; 2University of Nebraska Medical Center College of Public Health, Omaha, Nebraska, USA; 3Children’s Hospital and Medical Center of Omaha, Omaha, Nebraska, USA

Correspondence: Donny W Suh
Children’s Hospital and Medical Center of Omaha, Omaha, Nebraska, USA
Email dsuh@childrensomaha.org

Purpose: Through the establishment of relationships between optic nerve hypoplasia (ONH), optical coherence tomography (OCT) spectralis retinal nerve fiber layer (RNFL) thickness results and clinical sequelae, this study aims to identify long-term outcomes for individuals with ONH.
Methods: A retrospective review of pediatric ophthalmology patients at Children’s Hospital of Omaha from January 2000 to October 2018 was performed. All patients with ONH evaluated with Heidelberg Engineering’s OCT Spectralis were identified. Patient records were investigated for visual acuity, presence of nystagmus, strabismus, and endocrinopathies. Statistical analysis with linear regression models, random intercepts models, and odds ratios were used to define relationships between RNFL thickness at the optic nerve head, nystagmus, strabismus, and endocrine dysfunction.
Results: There exists a strong trend of worsening visual acuity as RNFL thickness at the optic nerve head decreases in all scanned regions. This is strongest at the temporal-superior (p=0.009) and nasal-inferior (p=0.006) regions in patients with bilateral ONH. There is insufficient evidence of a difference in prevalence of nystagmus or strabismus between subjects with unilateral or bilateral ONH. Endocrinopathy is present in 21.6% of the subjects, with no statistical difference in the type of endocrinopathy or laterality of ONH.
Conclusion: Trends established indicate that best-corrected visual acuity is related to RNFL thickness at the optic nerve head. Odds ratios for the prevalence of nystagmus also point to RNFL thickness as a contributing factor. These trends may have the potential to characterize ONH severity by objective measurement of clinical outcomes and RNFL thickness at the optic nerve head.

Keywords: optic nerve hypoplasia, optical coherence tomography, retinal nerve fiber layer thickness


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