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Deze abstract is toegekend aan sessie AOB Poster session 2 - Inflammatory pathology – Anterior segment – Ophthalmogenetics - Miscellaneous

Titel	Microcoria due to a duplication at chromosome 13q32 and maternal mosaicism
Abstract Nr.	2034

Doel	Microcoria is a congenital eye anomaly characterized by small pupillary opening. It is caused by an anomaly of the iris with absence of the muscle dilator of the pupil. In this case report, we describe a patient with non-syndromic microcoria du to a small duplication of the long arm of chromosome 13.
Methodes	A 18-month-old girl is examined with no prior medical history. Refraction is impossible and dilatation cannot be obtained with cyclopentolate or atropine. The slit lamp examination shows a blue iris with very small pupils. Iris hypoplasia with absence of iris crypts and contraction folds is observed. The intraocular pressure (IOP) is normal in both eyes. The fundus is inaccessible because of the very small pupils. We performed biometry, tonometry, gonioscopy and fundus examination under narcosis. All examinations are normal. During the clinical follow up IOP is followed. We performed a genetic testing.
Resultaten	The genetic anomaly observed is inherited by the mother, carrier of the duplication in a mosaic form. She presents a mild ocular phenotype. The duplication is detected by array comparative genomic hybridization. The exact breakpoints are characterized molecularly.
Conclusie	This case report confirms the previously reported locus on chromosome 13q as causal for non syndromic microcoria. This is the first description of a duplication in a patient with this phenotype and the presence of parental mosaicism. The possibility of mosaicism should be considered when genetic counselling is offered to the families.
Belangenverstrengeling	Nee

Auteur 1

Naam	POZZA
Initialen	E
Instituut	C.H.U. Saint-Pierre
Stad	Brussels

Auteur 2

Naam	Verdin
Initialen	H
Instituut	U. Gent
Stad	Ghent

Auteur 3

Naam	Menten
Initialen	B
Instituut	U. Gent
Stad	Ghent

Auteur 4

Naam	Deconinck
Initialen	H
Instituut	Cliniques Sud Luxembourg
Stad	Arlon

Auteur 5

Naam	Postolache
Initialen	L
Instituut	HUDERF
Stad	Brussels

Auteur 6

Naam	De Baere
Initialen	E
Instituut	U. Gent
Stad	Ghent

Auteur 7

Naam	Van Schil
Initialen	K
Instituut	U. Gent
Stad	Ghent

Auteur 8

Naam	Balikova
Initialen	I
Instituut	HUDERF
Stad	Brussels