Retinal detachment and prophylaxis in type 1 Stickler syndrome

Ophthalmology. 2008 Jan;115(1):164-8. doi: 10.1016/j.ophtha.2007.03.059. Epub 2007 Aug 2.


Purpose: To report the prevalence of retinal detachment (RD) and results of prophylaxis against detachment from a giant retinal tear in a large cohort of patients with type 1 Stickler syndrome.

Design: Retrospective study.

Participants: Two hundred four type 1 Stickler syndrome patients.

Method: Pedigrees and individuals with type 1 Stickler syndrome were identified from the vitreous research clinic and divided into 3 groups. Group 1 consisted of patients who received no prophylaxis (control group). Group 2 consisted of patients who had bilateral 360 degrees prophylactic cryotherapy (study group). Group 3 consisted of patients referred with unilateral RD for surgical repair and who underwent prophylaxis in the fellow eye (mixed group).

Main outcome measures: Retinal status after prophylaxis, with failure of prophylaxis being defined as the development of RD or retinal tears needing further retinopexy.

Results: Of 111 patients who had no prophylactic retinopexy (group 1; mean age, 49 years), 73% (81/111) suffered RD and 48% (53/111) were bilateral. Of 62 patients who had bilateral prophylactic cryotherapy (group 2; mean age, 21 years), 8% (5/62) suffered failure of prophylaxis. There were no cases of bilateral detachments. The mean follow-up period was 11.5 years. In 31 patients who had unilateral prophylactic cryotherapy to the fellow eye (group 3; mean age, 36 years), failure occurred in 10% (3/31) of cases with a mean follow-up of 15.5 years. The prevalence of failure of prophylaxis in treated patients was significantly less than prevalence of RD in untreated patients (chi2(1) = 119.2, P<0.001).

Conclusion: Prophylactic cryotherapy substantially reduces the risk of RD in type 1 Stickler syndrome and, in this series, eliminated the risk of bilateral detachments.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • Collagen Type II / genetics
  • Cryosurgery*
  • DNA Mutational Analysis
  • Eye Diseases / complications*
  • Eye Diseases / diagnosis
  • Eye Diseases / genetics
  • Female
  • Humans
  • Male
  • Middle Aged
  • Prevalence
  • Retinal Degeneration / complications*
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / genetics
  • Retinal Detachment / epidemiology
  • Retinal Detachment / etiology
  • Retinal Detachment / prevention & control*
  • Retinal Perforations / epidemiology
  • Retinal Perforations / etiology
  • Retinal Perforations / prevention & control
  • Retrospective Studies
  • Syndrome
  • Vitreous Body / pathology*


  • COL2A1 protein, human
  • Collagen Type II