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. 2001 May-Jun;3(3):192-6.

Retinal Detachment and Prophylaxis in Type 1 Stickler Syndrome

Group Retina Detachment

Bilateral RD Follow –Up(years)

No Treatment

73% 48% 21

Bilateral Treatment

8% 0% 11.5

Unilateral Treatment

10% 10% 15.5

Ang A, Poulson AV, Goodburn SF, Richards AJ, Scott JD, Snead MP.Ophthalmology. 2008 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

1 Why is detection and counseling important ?

2 What are the triggers for suspicion?3 What diagnostic complexity is posed by

COL2A1:Exon2 disease: ocular predominant

4 When and How is Stickler outcome improved ?

5 What are diagnostic pearls ?

THE END

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