Classic Lattice Degeneration

Perivascular Lattice

Photocoagulation spots in moderate pattern

Cryotherapy

Vitreous Anomoly

Attached with Silicone Oil

Early diagnosis and intervention for retinal detachments can preserve vision. Stickler GB, Hughes W, Houchin P. Clinical features of hereditary progressive arthro-ophthalmopathy (Sticklersyndrome): a survey. Genet Med May-Jun;3(3):192-6.

Retinal Detachment and Prophylaxis in Type 1 Stickler Syndrome GroupRetina Detachment Bilateral RDFollow –Up (years) No Treatment 73%48%21 Bilateral Treatment 8%0%11.5 Unilateral Treatment 10% 15.5 Ang A, Poulson AV, Goodburn SF, Richards AJ, Scott JD, Snead MP.Ophthalmology Jan;115(1):164-8.

Shapiro Recommendation Monitor Q 3 months to catch RD early EUAs as needed to get view of periphery Test each eye regularly Educate for Signs of breaks and RDs Educate of continued high risk (5-10%) Treat with laser from ora to anterior equator or most posterior pathology. Consider randomizing to cryotherapy

Choice of Intervention Peripheral Cryotherapy Peripheral Laser Photocoagulation Encircling Scleral Buckle Treatment of Pathologic PVD Monitoring

Questions for Physician Education 1Why is detection and counseling important ? 2What are the triggers for suspicion? 3What diagnostic complexity is posed by COL2A1:Exon2 disease: ocular predominant 4When and How is Stickler outcome improved ? 5What are diagnostic pearls ?

THE END (This power point was edited for the SIP Web Site)