Long-Term Follow-Up of Retinal Detachment Repair in Patients With Stickler Syndrome.

BACKGROUND AND OBJECTIVE: To report the long-term anatomic and visual outcomes of patients with Stickler syndrome undergoing retinal detachment (RD) surgery. PATIENTS AND METHODS: Retrospective, interventional, consecutive case series of patients with Stickler syndrome undergoing RD repair from 1999 to 2017 at the Long Island Vitreoretinal Consultants, New York. Retinal attachment status and visual acuity (VA) at 1-year and last follow-up were assessed. RESULTS: Successful reattachment was achieved in 28 of 29 eyes (97%) with an average of 2.3 surgeries (including silicone oil removal surgeries). Redetachment after the first surgery occurred in 13 eyes (45%). Mean Snellen VA at initial presentation, 1-year follow-up, and last follow-up were 20/289, 20/118 (P = .012), and 20/103 (P = .022), respectively. CONCLUSIONS: Anatomic success can be achieved in most eyes. However, redetachments are common, and multiple surgeries are often required. Reasonable visual recovery is possible in many eyes. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:612-616.].

Management of macular holes that develop after retinal detachment repair.

PURPOSE: To study the characteristics and management of macular holes that develop after prior rhegmatogenous retinal detachment (RD) repair. DESIGN: Retrospective, interventional, consecutive case series. METHODS: The setting was a clinical practice. The case records of all of our patients (n = 12) who developed a new full-thickness macular hole after prior RD repair over an 8-year period were examined. Patients who developed a macular hole after prior RD repair were offered either surgical repair of the macular hole or continued observation. For eyes that underwent macular hole repair, main outcome measures included macular attachment status and postoperative visual acuity. RESULTS: Twelve full-thickness macular holes were detected in a series of 2,380 eyes (0.5% prevalence), which had undergone surgery for prior primary RD. Ten macular holes developed after scleral buckling surgery, two after pneumatic retinopexy, and none were seen after primary vitrectomy. The fovea had been detached in 11 of the 12 eyes at the time of RD. The median time to macular hole diagnosis after RD repair was 3.4 months (range, 0.3-161 months). Eight of the eight eyes (100%) undergoing surgical repair achieved macular reattachment with a median of 3.5 lines of visual improvement at a median of 14.8 months of follow-up. Seven of these eight eyes had an improvement in visual acuity of at least 3 Snellen lines, and four of the eight had at least 20/40 visual acuity postoperatively. Four eyes with macular holes were observed. CONCLUSIONS: Macular holes developed in less than 1% of eyes that had previously undergone repair of rhegmatogenous RD. In our series, these atypical holes were seen predominantly after macula-off detachments, most commonly occurring after scleral buckling procedures. They were effectively repaired using conventional pars plana vitrectomy with long-acting gas tamponade and a variety of adjuvant therapies. A good visual outcome is possible with this approach.

Autosomal dominant pattern dystrophy: identification of a novel splice site mutation in the peripherin/RDS gene.

PURPOSE: To describe the clinical features of and identify the mutation responsible for an autosomal dominant pattern dystrophy occurring in a three-generation family. METHODS: Five affected family members underwent clinical examination and additional testing including intravenous fluorescein angiography where indicated. Mutation screening of the peripherin/RDS gene was performed. RESULTS: Visual acuity ranged from 20/20 to counting fingers. All patients who reported vision loss noted the onset after the age of 40 years. Predominantly perifoveal, discrete, retinal pigment epithelial changes were present in all patients. Two patients had extensive peripheral yellowish flecks, and one had an atrophic macular scar. Mutation screening of the complete peripherin/RDS coding sequence and exon/intron boundaries revealed a novel splice site mutation. CONCLUSION: A three-generation family with an autosomal dominant pattern dystrophy arising from a previously unreported splice site mutation in the RDS gene is described.