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This abstract is assigned to session SBO-BOG Posters session >> in Poster area - Foyer +1

Title

Stickler syndrome: more than meets the eye

Purpose	Stickler syndrome is the commonest inherited cause of rhegmatogenous retinal detachment in childhood, but frequently remains undiagnosed. We review the different types of Stickler syndrome as known today.
Methods	Two families with Stickler syndrome are described. A review of literature was performed.
Results	The estimated incidence of Stickler syndrome is about 1 in 10 000 newborns, but in newborns with Pierre-Robin sequence Stickler syndrome is reported in 15%-30% of cases. Ocular findings include high myopia, an optically empty vitreous cavity, posterior radial perivascular lattice-type degeneration, rhegmatogenous retinal detachment, cataracts and glaucoma. Non-ocular findings include facial changes, musculoskeletal changes, hearing loss and mitral valve prolapse. Stickler syndrome is caused by genetic alterations in collagen molecules. Autosomal dominant inheritance is seen with collagen type II and XI mutations. More recently a mutation in collagen type IX was described with an autosomal recessive inheritance pattern.
Conclusion	Early recognition of the Stickler syndrome phenotype is important for genetic counselling and possible treatment.

Author 1

Last name	DE KEYZER
Initials	THW
Department	Antwerp University Hospital, department of Ophthalmology
City	Antwerp

Author 2

Last name	SMETS
Initials	RME
Department	Antwerp University Hospital, department of Ophthalmology
City	Antwerp

Author 3

Last name	VAN CAMP
Initials	G
Department	University of Antwerp, department of Genetics
City	Antwerp