Introduction:

Stickler syndrome is a dominantly inherited disorder of collagen connective tissue with predominantly ophthalmic, orofacial, auditory, and articular manifestations. It is the commonest inherited cause of rhegmatogenous retinal detachment in childhood and although the systemic features are widespread, the sight threatening complications are perhaps the most conspicuous and serious manifestations.Stickler syndrome has been sub-classified into type 1 and type 2 to reflect the locus heterogeneity (OMIM Nos 108300, 184840) and this correlates with the vitreoretinal phenotype as discussed below. The systemic features are similar for both subgroups. There are no agreed diagnostic criteria for Stickler syndrome. The criteria we have used for research purposes are (1) congenital vitreous anomaly and, in addition, any three of the following: (2) myopia with onset before 6 years of age, usually stable ,(3) rhegmatogenous retinal detachment or paravascular pigmented lattice degeneration , (4) joint hypermobility with abnormal Beighton score, with or without radiological evidence of joint degeneration , (5) audiometric confirmation of sensorineural hearing defect, and (6) midline clefting.

Diagnosis

Clinical diagnosis using the criteria we have suggested above requires slit lamp Examination of the vitreous. However, in practice, it may be difficult to obtain an adequate slit lamp vitreous examination in children under 4 years of age. Molecular genetic diagnosis is not currently available on a service basis because of the size, complexity, and number of genes involved. The diagnosis of Stickler syndrome should be considered in (1) neonates with Pierre-Robin sequence or midline cleft, (2) infants with spondyloepiphyseal dysplasia associated with myopia or deafness,(3) patients with a family history of rhegmatogenous retinal detachment, and (4) sporadic cases of retinal detachment associated with joint hypermobility, midline clefting, or deafness.