title: Morning glory disc anomaly in childhood - a population-based study.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Dylan J
authors.initials: DJ
authors.lastname: Ceynowa
authors.affiliation: Neuropaediatric Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Ronny
authors.initials: R
authors.lastname: Wickström
authors.affiliation: Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.|Department of Paediatric Ophthalmology and Strabismus, St. Erik Eye Hospital, Stockholm, Sweden.
authors.forename: Monica
authors.initials: M
authors.lastname: Olsson
authors.affiliation: Department of Special Education, Stockholm University, Stockholm, Sweden.
authors.forename: Ulla
authors.initials: U
authors.lastname: Ek
authors.affiliation: Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.|Department of Medical Retina, St. Erik Eye Hospital, Stockholm, Sweden.
authors.forename: Urban
authors.initials: U
authors.lastname: Eriksson
authors.affiliation: Department of Clinical Science, Intervention and Technology, Division of Medical Imaging and Technology, Karolinska Institutet, Stockholm, Sweden.|Department of Radiology, Karolinska University Hospital Huddinge, Stockholm, Sweden.
authors.forename: Maria Kristoffersen
authors.initials: MK
authors.lastname: Wiberg
authors.affiliation: Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.|Department of Paediatric Ophthalmology and Strabismus, St. Erik Eye Hospital, Karolinska University Hospital, Huddinge, Sweden.
authors.forename: Kristina Teär
authors.initials: KT
authors.lastname: Fahnehjelm
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005124:Eye Abnormalities / Q000453:epidemiology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D009759:Nystagmus, Pathologic / Q000503:physiopathology; D009802:Oculomotor Nerve / Q000503:physiopathology; D009898:Optic Disk / Q000002:abnormalities*; D011681:Pupil Disorders / Q000503:physiopathology; D012027:Reflex, Vestibulo-Ocular / Q000502:physiology; D012029:Refraction, Ocular / Q000502:physiology; D042262:Retinoscopy; D013285:Strabismus / Q000503:physiopathology; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult
keywords: malformation; morning glory; optic disc/nerve; retina