Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol.

Abstract

PURPOSE:

The Stickler syndromes are the most common causes of inherited and childhood retinal detachment; however, no consensus exists regarding the effectiveness of prophylactic intervention. We evaluate the long-term safety and efficacy of the Cambridge prophylactic cryotherapy protocol, a standardized retinal prophylactic treatment developed to prevent retinal detachment arising from giant retinal tears in type 1 Stickler syndrome.

DESIGN:

Retrospective comparative case series.

PARTICIPANTS:

Four hundred eighty seven patients with type 1 Stickler syndrome.

METHODS:

Time to retinal detachment was compared between patients who received bilateral prophylaxis and untreated controls, with and without individual patient matching. Patients receiving unilateral prophylaxis (after fellow eye retinal detachment) were similarly compared with an appropriate control subgroup. Individual patient matching ensured equal age and follow-up between groups and that an appropriate control (who had not suffered a retinal detachment before the age at which their individually matched treatment patient underwent prophylactic treatment) was selected. Matching was blinded to outcome events. Individual patient matching protocols purposely weighted bias against the effectiveness of treatment. All treatment side effects are reported.

MAIN OUTCOME MEASURES:

Time to retinal detachment and side effects occurring after prophylactic treatment.

RESULTS:

The bilateral control group (n = 194) had a 7.4-fold increased risk of retinal detachment compared to the bilateral prophylaxis group (n = 229) (hazard ratio [HR], 7.40; 95% confidence interval [CI], 4.53-12.08; P<0.001); the matched bilateral control group (n = 165) had a 5.0-fold increased risk compared to the matched bilateral prophylaxis group (n = 165) (HR, 4.97; 95% CI, 2.82-8.78; P<0.001). The unilateral control group (n = 104) had a 10.3-fold increased risk of retinal detachment compared to the unilateral prophylaxis group (n = 64) (HR, 10.29; 95% CI, 4.96-21.36; P<0.001); the matched unilateral control group (n = 39) had a 8.4-fold increased risk compared to the matched unilateral prophylaxis group (n = 39) (HR, 8.36; 95% CI, 3.24-21.57; P<0.001). No significant long-term side effects occurred.

CONCLUSIONS:

In the largest global cohort of type 1 Stickler syndrome patients published, all analyses indicate that the Cambridge prophylactic cryotherapy protocol is safe and markedly reduces the risk of retinal detachment.

• Authors: Gregory S Fincham, Laura Pasea, Christopher Carroll, Annie M McNinch, Arabella V Poulson, Allan J Richards, John D Scott, Martin P Snead
• Journal: Ophthalmology (Ophthalmology) Vol. 121 Issue 8 Pg. 1588-97 (Aug 2014) ISSN: 1549-4713 [Electronic] United States
• PMID: 24793526 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2014 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Chemical References

• COL2A1 protein, human
• Collagen Type II

Topics

• Adolescent
• Adult
• Arthritis (complications, diagnosis, genetics)
• Clinical Protocols
• Collagen Type II (genetics)
• Connective Tissue Diseases (complications, diagnosis, genetics)
• Cryotherapy
• DNA Mutational Analysis
• Female
• Hearing Loss, Sensorineural (complications, diagnosis, genetics)
• Humans
• Male
• Pedigree
• Retinal Detachment (complications, diagnosis, etiology, genetics, prevention & control)
• Retrospective Studies
• Risk Factors
• Time Factors
• Young Adult