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TitelStickler syndrome: more than meets the eye
DoelStickler 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.
MethodesTwo families with Stickler syndrome are described.
A review of literature was performed.
ResultatenThe 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.
ConclusieEarly recognition of the Stickler syndrome phenotype is important for genetic counselling and possible treatment.
Auteur 1
NaamDE KEYZER
InitialenTHW
InstituutAntwerp University Hospital, department of Ophthalmology
StadAntwerp
Auteur 2
NaamSMETS
InitialenRME
InstituutAntwerp University Hospital, department of Ophthalmology
StadAntwerp
Auteur 3
NaamVAN CAMP
InitialenG
InstituutUniversity of Antwerp, department of Genetics
StadAntwerp
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