The common ocular features in Stickler syndrome are vitreous degeneration at an younger age; absence of vitreous or vitreous veils and membranes in the anterior vitreous; peripheral retinal abnormalities such as lattice degeneration, retinal tears & holes, retinoschisis, chorioretinal degeneration; myopic degeneration changes; bilateral retinal detachment (RD) and rarely nuclear sclerosis cataract at younger age [1
]. Nineteen of 31 patients in our study had features of high myopia. Ten of 62 eyes had cataract and almost all eyes had various vitreous abnormalities. Majority of our patients showed peripheral retinal abnormalities such as lattice degeneration, small retinal tears, giant retinal tears, chorioretinal atrophic scars, vitreoretinal tufts, or retinal detachment. In Stickler syndrome, retinal detachment is common cause for the guarded visual acuity. Families with high suspicion of retinal detachment need to be investigated for genetic abnormalities of SS [4
]. In a study by Edwards and associates, 22 family members with high rates of RD tested genetically showed positive C192A COL2A1 exon mutations [4
]. However, none of our patients had genetic results available, but the associated systemic and ocular features were highly suggestive of SS.
Early detection and treatment of vitreoretinal abnormalities in SS patients not only preserves vision but also prevents further vision threatening complications such as RD and phthisis bulbi [8
]. Prophylactic treatment of retinal tears and detachment described in the literature were cyrotherapy, 360 degree laser retinopexy (barrier), vitrectomy in combination with cryo or laser therapy and scleral buckle [9
]. Ang and associates performed a retrospective study on 204 patients with type I SS and reported the results of prophylactic cryotherapy in preventing retina detachment development [10
]. Seventy three percent of patients in the control group (n=111) who did not receive any prophylactic ocular treatment developed RD. Whereas among the patients who had bilateral 360 degree cryotherapy (group 2, n=62), only 8% developed RD [10
]. In their 3rd group (n=31), approximately 10% of patients developed RD in the fellow eye after prophylactic cryotherapy [10
]. In our study, laser retinopexy and or cryotherapy was performed in 15 eyes, combined vitrectomy and laser retinopexy or cryotherapy and or sclera buckle was performed in 7 eyes. All of them were stable without development of any complications until the last follow-up. The effect of laser treatment to prevent development of RD in SS was reported by Leiba and associates in a retrospective study of 22 patients [11
]. Ten patients of non-treated group (n=34 eyes) developed retina detachment. Whereas nine of the 10 eyes treated with prophylactic argon laser had attached retina at a follow-up period ranging from 1-15 years and one eye developed RD from a non-lasered lesion after 5 years. They summarized that prophylactic argon laser treatment in family members of SS with vitreoretinal abnormalities prevented the development of RD compared with those not treated with laser retinopexy [11
Apart from the prophylactic laser retinopexy or cryotherapy, surgery also provided good anatomical and functional outcomes in patients with Stickler syndrome with RD. In a twenty year cohort study by Abeysiri and associates, of the 30 eyes that had RD, 9 eyes had scleral buckle with cryotherapy and 19 eyes had primary vitrectomy and 2 eyes underwent barrier laser retinopexy [12
]. Following the above surgeries, the complete re-attachment rate at was 66.7%, 84.2%, 78.5% in primary scleral buckle, primary vitrectomy and all surgeries groups respectively. The study results also showed that approximately 33% of patients had increase in the average Logmar visual acuity after primary scleral buckle and vitrectomy surgeries [12
]. In our study, five fellow eyes with extensive lattice degeneration with or without associated retinal tears were treated by prophylactic scleral buckle. None of them developed retinal tears or detachment until the last follow-up visit. However, at a median follow-up of 22.5 months, seven eyes developed RD, that was subsequently treated by vitrectomy and scleral buckle. Whereas 16 of the fellow eyes developed retinal tears which were treated by either cryotherapy or laser retinopexy. The visual acuity was stable among our patients after various treatment methods. In another cohort study by Billington and associates, of the 33 patients with Wagner-Stickler syndrome (36 eyes with multiple tears and RD), 27 RD’s were successfully reattached following the scleral buckling (n=13) and vitrectomy (n=14) [13
Our paper has its few limitations. First, we did not divide the patients into various groups for different surgical procedures unlike other studies, and did not compare the outcomes with each procedure. We also did not have genetic test results of each patient. There was no detailed data of the asymptomatic eyes from the old patients in the patient sheets.
In summary Stickler syndrome patients who present with multiple retinal tears, giant retinal tears or retinal detachment may benefit from prophylactic barrier laser retinopexy or cryotherapy and scleral buckle or combination therapies. It is important regularly follow-up the patients after the complex and multiple retinal surgeries to check for both for anatomic status of the retina and the visual outcome.