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Morning glory syndrome

Orpha number ORPHA35737
Synonym(s) Ectasic coloboma
Volubilis syndrome
Prevalence Unknown
Inheritance Unknown
Age of onset Childhood
ICD-10
  • Q14.2
ICD-O -
OMIM
UMLS
  • C0549307
MeSH -
MedDRA
  • 10027974
SNOMED CT -

Summary

Morning glory syndrome (named after the flower) is a rare congenital anomaly of the optic papilla (region where the optic nerve emerges in the eye). It affects girls preferentially and is mostly unilateral. The diagnosis may be established on presentation of a strabismus, an amblyopia (impaired vision), a nystagmus, or a leucocoria (white pupil). Refraction anomalies are not uncommon: myopia, astigmatism, hypermetropia. At eye fundoscopy there is a large papilla with a funnel-shaped optic nerve head with a white dot in the center, an elevated ring of pigment around the disk, and thin and straight vessels radiating out from the ring-like spokes. Arteries and veins are not distinguishable. The peripheral retina and fovea are normal. Vision in the affected eye is severely impaired and non-evolutive. Morning glory syndrome is often associated with severe anomalies of the central nervous system (basal transsphenoidal encephalocele, agenesis of corpus callosum, defect of the floor of the sella turcica, chiasma agenesis), with endocrine, renal, or respiratory anomalies, with one of the components of the CHARGE association (Coloboma, Heart defects, Atresia of the choanae, Retarded Growth, Ear anomalies), and in some cases with hypertelorism or cleft palate. There is an increased risk of retinal detachment. This anomaly should not be confused with retinoblastoma, a tumor of the retina. Mutations in the PAX6 gene have been identified in families with the genetic syndromes including the Morning glory anomaly. There is no treatment for this anomaly, associated anomalies should be looked for in order to treat them when possible.


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