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At a glance

It is a very rare congenital ophthalmological disorder characterized by the association of strabismus, nonrhegmatogenous retinal detachment, or remnants of the hyaloid system of the eyes. Basal encephalocele has been encountered in a few cases. The “CHARGE” Syndrome, an acronym that stands for Coloboma of iris, Heart deformities, choanal Atresia, Retarded growth, Genital and Ear deformities has been demonstrated in association or as isolated congenital defects with this condition.

Synonyms

Morning Glory Flower; Moyamoya Disease; MDGA.

Incidence

The true incidence remains unknown. It affects females twice as often as males.

Genetic inheritance

It is a congenital optic nerve anomaly but the mode of transmission has not been established.

Clinical aspects

Funnel-shaped, excavated optic disc surrounded by chorioretinal pigmentary anomalies; it is generally unilateral and isolated but has been observed in association with midline facial defects (cleft lip or palate, hypertelorism, basal meningomyelocele, agenesis of corpus callosum), renal anomalies, the CHARGE association, and isolated cardiac defects (ie, atrial septal defect [ASD], ventricular septal defect [VSD], and patent ductus arteriosus [PDA]). In a few cases, basal encephalocele was also associated with the defect.

Anesthetic considerations

Check for associated anomalies, mainly airway and cardiac malformations. Anesthetic management is dictated by associated anomalies; one case of unexpected difficult tracheal intubation has been reported. The presence of a basal encephalocele might complicate airway management and positioning. Cardiac anomalies may be present and have their own considerations.

Other conditions to be considered

The presence of a coloboma can be observed in other systemic conditions such as ☞CHARGE (Colobomas and cranial nerves, Heart problems, Atresia of the choanae, Retardation of growth/development, Genital and urinary abnormalities, Ear and hearing abnormalities) association, ☞Walker-Warburg Syndrome, ☞Goltz Focal Dermal Hypoplasia, ☞Aicardi Syndrome, ☞Goldenhar Sequence, and Linear Sebaceous Nevus Syndrome. Morning glory disc anomaly is distinguished from coloboma by the abnormal formation of the posterior sclera and lamina cribrosa.

  • MGDA Syndrome (Moyamoya Disease): Characterized by midline cranial defects, abnormal carotid and Circle of Willis stenosis or aplasia, and progressive vascular obstruction with intracerebral vascular collateralization. The vascular defects may lead to ischemia, stroke, or seizures. The diagnosis is based on radiographic angiography imaging.

  • PHACE Syndrome: An acronym that stands for Posterior fossa malformations–Hemangiomas–Arterial anomalies–Cardiac defects–Eye abnormalities and sternal cleft and supraumbilical raphe Syndrome. It is characterized by a cutaneous condition with multiple congenital abnormalities. It should be included in the differential diagnosis when infants with large plaque-type facial hemangiomas are seen. These children should be investigated for ophthalmologic, cardiac, and neurologic assessment.

References

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