[MIM 120 430]

(Bindweed flower syndrome, morning anthemis syndrome, volubilis syndrome, ectasic coloboma syndrome)

Rare. Autosomal dominant transmission associated in some cases with mutations of the PAX6 gene (11p13) as is the coloboma of the optic disc. Congenital abnormality of the optic disc (emergence of the optic nerve in the retina). At eye examination, an enlarged, funnel-shaped excavation incorporates the optic disc. The disc itself is enlarged, orange or pink within a surrounding area of peripapillary chorioretinal pigmentary changes. Occasionally the disc itself may appear elevated. Within the center of the disc is a white glial tuft. Similar to petals on a flower, the blood vessels are increased in number and curve as they emanate radially from the disc, rather than in the usual central branching pattern. They then straighten, and it is often difficult to distinguish the arteriolar from the venous circulation. There are also small peripapillary arteriovenous communications. Depending on the size of papillary chorioretinal involvement, the macula may be incorporated into the excavation : this is called “macular capture"

May cause significant myopia, exotropia and retinal detachment. Usual manifestations : strabismus, nystagmus, amblyopia, or  leucocoria (differential diagnosis: retinoblastoma).

More common among girls. Although this anomaly is usually unilateral and isolated, it may be associated with:

-        anomalies of the central nervous system: agenesis of the corpus callosum or sella turcica

-        midline malformations: cleft lip or palate, hypertelorism, myelomeningocele of the base of the skull, anomalies of the sella turcica

-        Moyamoya disease

-        CHARGE or PHACE syndrome (see these terms)

-        cardiac malformation (ASD, VSD)

-        endocrine  (absence of sella turcica) or renal involvement

Anesthetic implications:

check the absence of associated malformations (risk of meningocele of the base in case of hypertelorism); avoid nasal intubation in case of meningocele of the base of the skull , risk of difficult intubation  (1 reported case) ?

References : 

-         Shevchenko Y, Rehman M, Dorsey AT, Schwartz RE, Moseley R. 
Unexpected difficult intubation in the patient with Morning Glory syndrome. 
Paediatr Anaesth 1999; 9: 359-61.

-        Georgalas I, Spyropoulos D, Paraskevopoulos T, Rotsos T.
Morning glory disc anomaly in a child with esotropia.
J Pediatr 2018 ; 203 : 458-9

Updated: January 2019