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.

Keywords

• Diagnosis
• early onset myopia
• primary care
• prophylaxis
• surveillance