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The clinical and morphologic spectrum of optic nerve hypoplasia
A Hellström1, L M Wiklund, E Svensson
1Department of Clinical Neurosciences, University of Göteborg, Sweden. ann.hellstrom@medfak.gu.se
Insights
Optic nerve hypoplasia (ONH) presents a diverse range of clinical and structural features in children. This condition is frequently linked to various central nervous system disorders, highlighting the need for comprehensive evaluation.
Area of Science:
- Ophthalmology
- Pediatrics
- Neurology
Background:
- Optic nerve hypoplasia (ONH) is a congenital condition affecting vision.
- Understanding the full spectrum of ONH is crucial for diagnosis and management.
Purpose of the Study:
- To characterize the clinical and morphologic spectrum of ONH in children.
- To analyze data from a Swedish tertiary referral hospital over a 9-year period.
Main Methods:
- Retrospective chart review of 117 children diagnosed with ONH.
- Ocular fundus morphology assessed via digital image analysis.
- Neuroimaging performed in a subset of patients.
Main Results:
- 56% of patients were male; 20% were preterm births.
- 88% had additional diagnoses including fetal alcohol syndrome and septo-optic dysplasia.
- 75% experienced visual impairment, with high rates of nystagmus and strabismus.
Conclusions:
- ONH exhibits a broad clinical and morphologic spectrum.
- ONH is associated with a wide array of central nervous system disorders.
- Variations in etiology, timing, and associated lesions likely contribute to the observed spectrum.
Purpose:
The purpose of this study was to characterize the clinical and morphologic spectrum of all children referred for optic nerve hypoplasia to a tertiary referral hospital in Sweden during a 9-year period.
Subjects And Methods:
A retrospective review was undertaken of the charts of 117 children (age range, 0.25-16 years), treated at the Children's Hospital, Göteberg between 1988 and 1996, after the diagnosis of optic nerve hypoplasia. Ocular fundus morphologic condition was evaluated by digital image analysis of fundus photographs in 50 children, and neuroimaging was performed in 57 children.
Results:
Of the 117 children with optic nerve hypoplasia, 66 (56%) were boys and 51 (44%) were girls. Preterm birth occurred in 24 (20%), and 14 (12%) were born small for gestational age. Additional diagnoses, such as fetal alcohol syndrome, septo-optic dysplasia, perinatal adverse events, and neuropsychiatric disorders, were made in 88%; 7% had unilateral optic nerve hypoplasia. Most of the children had small optic disc, cup, and neuroretinal rim areas, as well as retinal vascular abnormalities; 75% were visually impaired, and a high incidence of nystagmus and strabismus was found among these children.
Conclusion:
This study indicates that optic nerve hypoplasia has a wide clinical and morphologic spectrum and is associated with a broad range of disorders of the central nervous system. It is suggested that differences in the etiology and timing of the lesion as well as associated lesions may explain this spectrum of optic nerve hypoplasia in children.
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