Title : Stickler syndrome. Clinical presentation and outlook
Abstract:
Stickler Syndrome is an uncommon frequently undiagnosed multisystem collagenopathy with significant genetic and phenotypic heterogeneity, a condition that carries a risk for significant ocular complications, ranging from severe myopia to retinal detachment and vision loss. Systemic findings, including micrognathia, cleft palate, hearing loss, or early onset osteoarthritis.
We report the case of a family of multiple affectees with Stickler Syndrome who presented with history of high myopia in father and three offsprings. Children were found to have flat mid facies, and membranous vitreous that is characteristically seen in STL1. Further systemic investigations and genetic testing /gene sequencing of the entire family was also carried out. Genetic testing results may be used to help guide management, assist in testing other at-risk individuals, and provide the parents with genetic counselling.
