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Review
. 2018 Oct-Dec;8(4):189-195.
doi: 10.4103/tjo.tjo_97_18.

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

Michael J Shapiro  1   2 , Michael P Blair  1   3 , Mark A Solinski  1 , David L Zhang  1 , Sayena Jabbehdari  1
Affiliations
Review

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

Michael J Shapiro et al. Taiwan J Ophthalmol. 2018 Oct-Dec.

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.

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Conflict of interest statement

The authors declare that there are no conflicts of interests of this paper.

Figures

Figure 1
Figure 1
Membranous vitreous anomaly in Stickler Disease Type 1 photographed through slit lamp ocular with I-phone: The lens shows smooth reflections and to the right of the posterior lens in the anterior vitreous cavity is a bright reflection off the surface of a vitreous sheet with a light reflex similar to an anterior vitreous face, but showing gentle folds
Figure 2
Figure 2
Beaded vitreous anomaly in Stickler disease Type 2 photographed with retro-illumination fibrillar stands with beads are seen. On slit lamp examination, they appear as white light reflex with beads
Figure 3
Figure 3
Perivascular lattice: wide-angle funds view of Type 1 Stickler disease patient shows perivascular lattice
See this image and copyright information in PMC

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