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This abstract is assigned to session AOB Poster session 2 - Inflammatory pathology – Anterior segment – Ophthalmogenetics - Miscellaneous

Title	Familial Axenfeld-Rieger syndrome caused by a FOXC1 deletion clinically mimicking aniridia.
Abstract Nr.	2032

Purpose	Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disease caused by defective migration of neural crest cells resulting in bilateral anterior segment dysgenesis (posterior embryotoxon and iris abnormalities). Different mutations result in overlapping phenotypes without a clear genotype-phenotype relationship. Here we describe the case of a newborn who presented with congenital glaucoma and clinical aniridia born to a father with a milder phenotype of ARS.
Methods	Case report.
Results	A 3-day-old otherwise healthy girl was referred for evaluation of bilateral congenital glaucoma. Family history was positive for ARS with both the father and paternal aunt affected. On examination of the infant buphthalmos, corneal edema and increased intraocular pressure (IOP) were found in both eyes, with only a rim of the iris being visible. B-scan ultrasonography described bilaterally anterior tilting of the iris with goniosynechiae. Examination of the father showed an ectopic pupil, posterior embryotoxon and iridocorneal adhesions. The infant was diagnosed with bilateral congenital glaucoma associated with ARS. An urgent trabeculectomy was performed in both eyes resulting in improvement of visual function. Genetic testing in the father revealed the presence of a heterozygous deletion of the complete FOXC1 gene.
Conclusion	The intrafamilial variability associated with FOXC1-associated ARS can vary from mild to severe involvement mimicking aniridia. This case report describes 2 distinct phenotypes in first-degree relatives with FOXC1-associated ARS.
Conflict of interest	No

Authors 1

Last name	DECLERCK
Initials	E
Department	Student Medicine
City	Leuven

Authors 2

Last name	Van Keer
Initials	K
Department	Department of Ophthalmology-KUL
City	Leuven

Authors 3

Last name	Stalmans
Initials	I
Department	Department of Ophthalmology-KUL
City	Leuven

Authors 4

Last name	Casteels
Initials	I
Department	Department of Ophthalmology-KUL
City	Leuven

Authors 5

Last name	Devriendt
Initials	K
Department	Department of Human Genetics-KUL
City	Leuven

Authors 6

Last name	De Baere
Initials	E
Department	Center for Medical Genetics-UGhent
City	Ghent