Purpose: This study set out to evaluate magnetic resonance imaging (MRI) and measurement of optic disc size as diagnostic tools for confirming the diagnosis of optic nerve hypoplasia (ONH) in children with impaired growth.
Methods: MRI was performed to study the size of the intracranial visual pathways, and image analysis measurements of fundus photographs were performed to determine the size of the optic disc. Results from these investigations were compared with those using the gold standard for diagnosis of ONH, which was the clinical eye examination (visual function, ophthalmoscopic signs, or both). Forty children (median age, 9 years; range, 3 to 19 years) with impaired growth were included in the study.
Results: The prevalence of ONH among the children was 15%. MRI classification of the visual pathways had a higher positive predictive value than image analysis measurement of the optic disc size (1.0 vs 0.6).
Conclusions: MRI is a good tool for confirming the diagnosis of ONH and may thus facilitate early detection. On the other hand, a small optic disc per se is not a definite indicator of ONH but should encourage further investigation with MRI, especially if there is a clinical suspicion of ONH.