Morning Glory Disc Anomaly in childhood – a population‐based study

Abstract

ABSTRACT.Purpose: To report prevalence, ocular characteristics and coexisting neurological, behavioural, somatic and neuroradiological abnormalities in children and adolescents with morning glory disc anomaly (MGDA). Methods: In a cross-sectional population-based study, 12 patients with MGDA, aged 2-20 years, were identified. All 12 agreed to ophthalmological assessments including visual functions, refraction, fundus photography, optical coherence tomography (OCT) and ocular motor score (OMS). Neurological examinations and behavioural/developmental screening were carried out. Data from previous or new neuroradiological investigations were collected. Results: The prevalence of MGDA was 2.6/100 000. MGDA was unilateral in 11/12 patients with a best-corrected visual acuity (BCVA) in the MGDA eye ranging from hand motion to 0.65 (median 0.06). Severe microphthalmus prevented unilaterality to be determined in one adolescent. All patients had a binocular BCVA of ≥0.5. OMS showed abnormalities in pupil response, vestibulo-ocular reflex, stereo visual acuity, strabismus and convergence. OCT revealed peripapillary or macular oedema in 5/8 patients and foveal aplasia in 3/8 patients. Three patients had extensive capillary hemangiomas, of which one had PHACES syndrome and one had additional cerebrovascular anomalies and corpus callosum agenesis. Neuroradiology showed craniovascular anomalies in two patients. Neurology was mostly normal. Behavioural/developmental screening showed attention deficit hyperactivity disorder in one patient. Conclusions: The prevalence data, previously not reported, of morning glory disc anomaly was 2.6/100 000. Coexisting retinal peripapillary or macular oedema was common, as were cerebral abnormalities and/or cutaneous vascular malformations. The associated findings may not be discovered through routine ophthalmological examination why OCT and neuroimaging are called for.

Morning Glory Disc Anomaly Associated with Ipsilateral Optic Nerve and Chiasm Thickening: Three Cases and Review of the Literature

“…2,3,6 Extraorbital abnormalities were also reported, including a wide spectrum of vascular abnormalities, 7 posterior pituitary ectopia, 8 midline facial defects, basal encephalocele, 9 and abnormalities of the visual pathways too, the latter consistent with our observation of optic nerve/chiasm thickening. 2,10,11 Ceynowa et al 10 and Ellika et al 2 reported one case each of bulging of the prechiasmatic segment of the ipsilateral optic nerve, without specifying if gadolinium enhancement was present at that site, and referred these features to a probable optic nerve glioma. Bandopadhayay et al 11 described similar findings, further characterized by thin peripheral enhancement, interpreted again as optic glioma.…”

“…Among Ceynowa et al case series, another patient with asymmetric optic chiasm was reported: the authors attributed this aspect to an atrophy contralateral to MGDA, explaining it as an anterograde degeneration process from ganglion cell deficit within the developing retina. 10 No images were available for the check, but the fact that ipsilateral optic nerve and contralateral optic tract, with respect to MGDA site, were not described as atrophic too, make us suspect that the asymmetry should be better interpreted as thickening on the affected side, rather than atrophy on the contralateral one. We believe that also the case described by Auber and O'Hara 2 should be considered in the same way: they describe a reduction in the size of the optic nerve and chiasm contralateral to MGDA which, in our opinion, cannot be explained by an anterograde degeneration as suggested.…”

Veränderungen der Papilla nervi optici im Kindesalter

“…Zentral zeigt sich eine gliöse Auflagerung. Die Sehschärfe des betroffenen Auges (bilaterale Fälle sind selten) ist in der Regel mäßig bis stark reduziert (11). Bei ca.…”

Papillendiagnostik mithilfe der optischen Kohärenztomografie

“…Zentral lässt sich i. d. R. eine typische büschelförmige gliöse Auflagerung am Papillengrund darstellen. Die OCT-Untersuchung ist weiterhin hilfreich zur Aufdeckung einer begleitenden serösen Makulaabhebung, einer Makulaaplasie oder einer Einbeziehung der Makula in den Papillenbereich (macular capture) [20,21] (▶ Abb. 2).…”