Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome (STL-DR-PREV)

Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial

The purpose of this study is to determine whether a scleral buckling surgical procedure performed on fellow eyes of patients with genetically confirmed Stickler syndrome can prevent the occurrence retinal detachment and/or severe vision loss of the study eye.

Stickler syndrome (STL) is a genetic disease affecting several organs. However the major risk is represented by the development of retinal detachment (RD). Up to 80% of patients present a RD and 25% to 80% have sequential bilateral RD. The surgical outcome of RD in this population is worse than that of the general RD population mainly because of the severity at diagnosis and the high frequency and severity of postoperative complications. Prevention has therefore emerged as a therapeutic option for this identifiable high-risk group of patients. Prevention has been proposed especially for the fellow (contralateral) eye of patients having presented a RD in their first eye and often lost vision as a consequence of retinal detachment in the first eye. The investigators hypothesize that a scleral buckling surgical procedure performed for the fellow eye of STL patients having recently presented a RD of the first eye could prevent the occurrence of bilateral RD and/or vision loss. Stickler patients are regularly diagnosed and followed-up in referral centers mainly in the context of a recent retinal detachment. They are proposed genetic testing as part of the standard of care. Genetically confirmed Stickler patients having recently presented (<24 months) a retinal detachment and treated as part of the standard care are eligible for this study. During the usual follow-up visits performed for their recent first RD operation they will be informed and offered to participate in the "STL-DR-PREV study" for the prevention of RD of their fellow eye. Patients in the intervention arm will undergo an encircling scleral buckle surgical procedure, which is a routine surgical procedure used for decades and still in use to treat RD that will be performed in the present study to prevent rather than to treat retinal detachment from a healthy eye of a patient having a genetically confirmed Stickler Syndrome.

Standard procedure of clinical practice without any surgical procedure for the unaffected fellow eye.

Early Treatment Diabetic Retinopathy Study (ETRDS) best corrected visual acuity (BCVA) and dilated funduscopic examinations at scheduled follow-up (every 6 months)

outcome of surgery for RD in the study eye of patients for whom prevention failed and had to be operated on for RD repair of the study eye

To assess within the experimental arm whether patients having had cryotherapy as part (allowed by the protocol at the surgeon's discretion in addition to the standard procedure) of the scleral buckling procedure present a decrease in the rate of RD as compared to buckled patients without cryotherapy

Inclusion Criteria: Genetically confirmed Stickler Syndrome Aged 5 to 35 Recent retinal detachment in the non-study eye (<24 months) Signed informed consent to participate in the study Sufficient patient cooperation to perform a complete ophthalmologic examination including a dilated fundus examination Exclusion Criteria: Any type of previous prevention (laser, cryotherapy, scleral buckle) for the study eye Subclinical retinal rhegmatogenous detachment in the study eye. Any other ocular disease unrelated to Stickler syndrome significantly affecting visual acuity (ETDRS BCVA<20/400). Contraindications to general anesthesia Posterior vitreoretinal traction on optical coherence tomography Intraoperative detection of one or more of the above-mentioned non-inclusion criteria

Monin C, Van Effenterre G, Andre-Sereys P, Haut J. [Prevention of retinal detachment in Wagner-Stickler disease. Comparative study of different methods. Apropos of 22 cases]. J Fr Ophtalmol. 1994;17(3):167-74. French.

Abeysiri P, Bunce C, da Cruz L. Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts. Graefes Arch Clin Exp Ophthalmol. 2007 Nov;245(11):1633-8. doi: 10.1007/s00417-007-0609-2. Epub 2007 Jun 20.

Carroll C, Papaioannou D, Rees A, Kaltenthaler E. The clinical effectiveness and safety of prophylactic retinal interventions to reduce the risk of retinal detachment and subsequent vision loss in adults and children with Stickler syndrome: a systematic review. Health Technol Assess. 2011 Apr;15(16):iii-xiv, 1-62. doi: 10.3310/hta15160.

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

Fincham GS, Pasea L, Carroll C, McNinch AM, Poulson AV, Richards AJ, Scott JD, Snead MP. Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol. Ophthalmology. 2014 Aug;121(8):1588-97. doi: 10.1016/j.ophtha.2014.02.022. Epub 2014 May 1.