In this study, the aim was to outline the ophthalmic and imaging features associated with congenital optic nerve hypoplasia (ONH) in eyes with microcornea and sclerocornea. This was a retrospective study of 8 eyes and 5 infants (3 bilateral and 2 unilateral), presenting between 3 months and 4 years of age. The most common presenting complaint was small eye, whitish discoloration of eyes and shaking of the eyes. These features were noticed by parents within 1 month of birth in 4 infants and by a paediatrician in 1 infant. Visual acuity of no light perception was noted for 3 eyes, presumed light perception in 1, and no fixation of light in 4. Corneal diameter was <7mm in 6 eyes. Sclerocornea/opacification with no anterior/posterior segment view was present in 5 eyes. A clear cornea was present in 3 eyes. B-scan was undertaken on all eyes showing microphthalmos and small rudimentary or absent optic nerve shadow, confirming ONH. Added issues included crumpled/dysplastic retina, total funnel retinal detachment, presence of stalk-like structure or absent lens. Two infants had chiasmal aplasia and 1 with midline lesion in the parietal/occipital region with chiasmal deviation to the right. Balanced reciprocal chromosomal translocation and PITX3 mutation was documented for all infants. The authors discuss rehabilitation to maximise visual function with a holistic overview. They conclude B-scan and MRI are crucial diagnostic tools in the diagnosis of ONH. In addition to screening for optic nerve status, it is important to identify anomalies beyond the eye to help with management of patient and family expectations, prognosis and management.
Overview of features associated with congenital optic nerve hypoplasia
Reviewed by Fiona Rowe
The associations of congenital optic nerve hypoplasia with microcornea/sclerocornea.
CONTRIBUTOR
Fiona Rowe (Prof)
Institute of Population Health, University of Liverpool, UK.
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