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.