The importance of early diagnosis of Stickler syndrome: Finding opportunities for preventing blindness

Abstract

Stickler Syndrome (SS) is a significant cause of retinal blindness in children. The immediate cause of blindness is retina detachment from giant retinal tear (GRT). It is frequently diagnosed late and the giant retinal tear (GRT) may be complicated by high-grade proliferative vitreoretinopathy (PVR). The surgery for the combined GRT with PVR has limited structural results and the vision mainly remains impaired. In order to improve the visual outcomes, we propose an organized program oriented toward early diagnosis and surveillance. Adding an effective prophylaxis may maintain normal vision in a high percent of patients. The critical diagnostic moments for this program are prenatal and at birth. The tools include a directed history, general physical exam and advanced ophthalmologic exam looking for the particular features of SS. Some features may need advanced skills transfer, because they are not reliably taught in retina fellowships. Much of this program requires a partnership with obstetricians, pediatricians, neonatologists and geneticists. Finally, we review the evidence regarding prophylaxis and discuss our approach in the absence of guidance from a randomized clinical trial.

Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation

“…Some individuals exhibit congenital abnormalities of the anterior chamber drainage angle, increasing the risk for glaucoma [ 3 , 33 ]. Vitreous abnormalities are common with a high risk of retinal detachment [ 2 , 3 , 4 , 5 , 16 , 17 , 28 ]. Membranous vitreous is characteristically seen in STL1 [ 2 , 28 , 29 ].…”

“…Membranous vitreous is characteristically seen in STL1 [ 2 , 28 , 29 ]. Approximately 60–70% of individuals with STL1 will experience a retinal detachment, and of those approximately half will be bilateral [ 3 , 4 , 16 , 17 ]. Individuals with STL2 typically exhibit a beaded vitreous, although membranous vitreous has also been reported in these individuals [ 3 , 4 , 22 , 28 ].…”

“…Approximately 60–70% of individuals with STL1 will experience a retinal detachment, and of those approximately half will be bilateral [ 3 , 4 , 16 , 17 ]. Individuals with STL2 typically exhibit a beaded vitreous, although membranous vitreous has also been reported in these individuals [ 3 , 4 , 22 , 28 ]. Risk of retinal detachment in individuals with STL2 has been less widely studied than in those with STL1 but has been previously reported to be approximately 40% [ 28 ].…”

“…Stickler Syndrome (SS) is a relatively common multisystem connective tissue disorder. First described in 1965 by Gunnar Stickler [ 1 ], SS is best known to ophthalmologists as a condition that confers a risk for significant ocular complications, ranging from severe myopia to retinal detachment and vision loss [ 2 , 3 , 4 ]. While ocular complications are both common and often very serious, skeletal/joint, inner ear, and craniofacial structures are often involved [ 2 , 5 ].…”

“…However, penetrance does appear to be complete, meaning all affected individuals will manifest some features of the condition [ 5 , 6 ]. A high index of suspicion allows for early detection and diagnosis which can improve clinical outcomes for these individuals [ 4 , 16 , 17 ].…”