Paediatric
Optic Nerve Hypoplasia
Also known as: optic nerve hypoplasia, ONH, small optic disc, double ring sign, septo-optic dysplasia, de Morsier, optic disc hypoplasia, congenital visual impairment
Filed as: Urgent
Source-cited from the record's own evidence list. Clinical content programme led by Dr Ankit Mathur, PhD, Grad Cert Ocu Thera, B.S. Optom. How the clinical content is governed
Clinical decision support only
Overview
Congenital underdevelopment of the optic nerve, and one of the commonest causes of congenital visual impairment. The point that matters most in primary care is that THIS IS AN ENDOCRINE PROBLEM PRESENTING AS AN EYE SIGN. In a 197-patient series, 57% of children with bilateral and 21% with unilateral ONH had a pituitary deficiency (Murray 2024); ACTH deficiency carries a risk of hypoglycaemia and adrenal crisis. In a prospective cohort, 71% had developmental delay at age 5 (78% bilateral, 39% unilateral; Garcia-Filion 2008).
Recognition
Symptoms: what patients report
- Poor vision or poor visual behaviour, often noticed in infancy.
- Nystagmus in bilateral cases.
- Strabismus in unilateral or asymmetric cases.
- Parents may report no eye symptoms at all where the deficit is unilateral and the child compensates.
Signs: what the examination shows
- A small, pale optic disc, often with a surrounding yellow-white ring — the 'double ring sign'.
- A small disc relative to the disc-to-macula distance supports the diagnosis: a disc diameter divided by the disc-centre-to-fovea distance below approximately 0.35, or a disc-to-macula distance of more than 3.0 disc diameters (Centre for Eye Health chair-side reference). The two cut-offs are not equivalent (1 divided by 0.35 is about 2.9).
- Tortuous retinal vessels relative to the small disc.
- Nystagmus (bilateral disease) or strabismus (unilateral disease).
- Visual acuity ranging from near-normal to no light perception, and frequently a visual field defect.
What OptoGuide™ covers for optic nerve hypoplasia
- Pattern reasoning: what this combination of findings points to, and its differentiators
- Don't-miss risks and escalation triggers
- Management tiers with linked New Zealand therapeutics
- Referral urgency, specialty, and letter drafting
Sources
- Optic Nerve Hypoplasia — EyeWiki
- RANZCO — Paediatric Referral Guidelines (April 2025)
- Congenital Disorders of the Optic Nerve: Excavations and Hypoplasia. Dutton GN. Eye (London, England). 2004;18(11):1038-48.
- Pituitary deficiencies related to optic nerve hypoplasia and visual acuity. Murray A, Schwartz T, Hornung L, Lawson S. Clinical Endocrinology. 2024;101(5):507-515.
- Neuroimaging and Endocrine Disorders in Paediatric Optic Nerve Hypoplasia. Qian X, Fouzdar Jain S, Morgan LA, et al. The British Journal of Ophthalmology. 2018;102(7):906-910.
- Optometry Australia — A Diagnostic Guide to Posterior Eye Disease, Chairside Reference Pack (Centre for Eye Health), Version 2.0, 2026: Optic Nerve Head Anomalies
- Neuroradiographic, endocrinologic, and ophthalmic correlates of adverse developmental outcomes in children with optic nerve hypoplasia: a prospective study. Garcia-Filion P, Epport K, Nelson M, et al. Pediatrics. 2008;121(3):e653-9.
Standard texts: Kanski's Clinical Ophthalmology: A Systematic Approach, The Wills Eye Manual.