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Titre	Mowat-Wilson syndrome: an expanding ocular spectrum.
Abstract Nr.	1056

But	To report on the ocular features of Mowat-Wilson syndrome. Mowat-Wilson syndrome is a relatively new syndrome (1998) with a widely variable spectrum. There may be a typical facial appearance, neurocranial disorders (esp. callosal agenesis) and intellectual disability , Hirschprung’s disease, dental, oropharyngeal, gastrointestinal, musculoskeletal, cardiovascular, genitourinary, skin, auricular and ocular abnormalities. The syndrome is caused by mutations of the ZEB2 gene on chromosome 2q22.3 which encodes a transcription factor critical for organogenesis, esp. of neural crest derived cells. Ocular features reported are: ptosis, strabismus, nystagmus, microphthalmus, Axenfeldt anomaly, high myopia, cataract, uveal and optic nerve coloboma, chorioretinal and optic nerve dysplasia. We report two cases with severe spectrum Mowat-Wilson and three hitherto unreported ocular features: aniridia, achiasmia and hypoplasia/aplasia of the ocular muscles .
Méthodes	case reports
Résultats	2 cases are described with severe ocular features including microphthalmia, cataract, chorioretinal dysplasia, optic nerve aplasia, aniridia and ocular muscle hypo/aplasia.
Conclusion	The ocular spectrum of Mowat-Wilson syndrome is expanding. To our knowledge these are the first reports of associated ocular muscle hypoplasia, achiasmia and aniridia.

Auteur 1

Nom	HOUTMAN
Initiales	AC
Institut	Universitair Ziekenhuis Vrije Universiteit Brussel
Ville	Brussel

Auteur 2

Nom	De Rademaker
Initiales	M
Institut	Universitair Ziekenhuis Vrije Universiteit Brussel
Ville	Brussel