Retinal detachment and prophylaxis in type 1 Stickler syndrome.
OBJECTIVE
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.


METHODS
Retrospective study.


METHODS
Two hundred four type 1 Stickler syndrome patients.


METHODS
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).


METHODS
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).


CONCLUSIONS
Prophylactic cryotherapy substantially reduces the risk of RD in type 1 Stickler syndrome and, in this series, eliminated the risk of bilateral detachments.
Vitreoretinal Service, Addenbrooke's Hospital, Cambridge, United Kingdom.
Alan
A
Ang
Arabella V
AV
Poulson
Sandy F
SF
Goodburn
Allan J
AJ
Richards
John D
JD
Scott
Martin P
MP
Snead
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D024043:Collagen Type II / Q000235:genetics; D003452:Cryosurgery; D004252:DNA Mutational Analysis; D005128:Eye Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012162:Retinal Degeneration / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012163:Retinal Detachment / Q000453:epidemiology / Q000209:etiology / Q000517:prevention & control*; D012167:Retinal Perforations / Q000453:epidemiology / Q000209:etiology / Q000517:prevention & control; D012189:Retrospective Studies; D013577:Syndrome; D014822:Vitreous Body / Q000473:pathology*
C499177:COL2A1 protein, human; D024043:Collagen Type II