morning glory syndrome

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morning glory syndrome2016-11-27T09:09:35+00:00

morning glory syndrome

morning glory flower image from New Medical Terms

morning glory flower

OPHTHALMOLOGY

Definition A rare, inherited, usually unilateral dysplastic coloboma (OMIM:120430) characterised by mottled peripapillary pigment and an enlarged, funnel-shaped optic disc filled with hyaloid remnants in its base, surrounded by an elevated rim and tortuous radiating

morning glory syndrome image from New Medical Terms

fundus in morning glory syndrome

vessels–from whence the name, morning glory, a flower; it is thought to occur during the 5th week of embryonic development

Clinical findings Vision impairment, strabismus, enlarged optic nerve head,  potential retinal detachment, often associated with craniofacial defects, especially basal encephalocele, cleft lip and palate, corpus callosum agenesis, omphalocele 

Molecular pathology Defects of PAX6, which encodes a transcription factor with a conserved DNA-binding paired box domain and a homeo box domain, both of which bind DNA and regulate transcription in the developing nervous system and eyes and optical vesicle, are thought to cause morning glory syndrome, 

Synonym Coloboma of optic nerve, morning glory anomaly, optic nerve head pits—bilaeral congenital (included),

References Childs Nerv Syst. 2003 Dec 23   

http://www.omim.org/entry/120430

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