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.
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.