A Comparative Study of Traditional Scleral Buckling to a New Technique: Guarded Light Pipe with Heads-Up Three-Dimensional Visualization.

Purpose: The guarded light pipe is a recently described alternative endoillumination technique to chandelier illumination. We sought to compare the outcomes of scleral buckling (SB) under indirect ophthalmoscopy (ID) to heads-up three-dimensional visualization with a guarded light pipe (3DGLP). Methods: A retrospective comparative study was performed, including 47 eyes that underwent SB for rhegmatogenous retinal detachment (RRD) repair with either traditional ID (n = 31) or 3DGLP (n = 16). Results: The single surgery anatomic success rate was 87.0% in the ID group and 87.5% in the 3DGLP group. The final anatomic success rate was 100% in both groups. The median (interquartile range) post-operative logMAR was 0.10 (0.0-0.20) in the ID group and 0.08 (0.02-0.69) in the 3DGLP group (p = 0.51). The median operative time was 107 (94-123) minutes in the ID group and 100 (90-111) minutes in the 3DGLP group (p = 0.25). Among eyes that underwent subretinal fluid drainage, the operative time was significantly longer in the ID group compared to the 3DGLP group, 113 (100-135) minutes vs 93 (85-111) minutes (p = 0.035). There were no post-operative complications in the ID group and one complication of self-resolving vitreous hemorrhage associated with a malfunctioning cryoprobe in the 3DGLP group (p = 0.34). There were no cases of post-operative cataract progression in either group. Conclusion: Compared to traditional SB, 3DGLP improves ergonomics and educational value with similar anatomical, visual, intra and post-operative outcomes and may result in shorter operative time in cases requiring subretinal fluid drainage.

Purtscher-like retinopathy following a bowel movement.

Purpose: To describe a case of Purtscher-like retinopathy that developed after a bowel movement. Observations: A 32-year-old male presented with blurry vision and bilateral temporal paracentral scotomas that developed immediately after standing up from a bowel movement. Fundoscopic examination was notable for bilateral cotton wool spots in the nasal macula. Optical coherence tomography showed bilateral intraretinal fluid, subfoveal fluid, and scattered areas of inner retinal hyperreflectivity and thickening corresponding to the areas of cotton wool spots on examination. No treatment was administered and the patient had significant improvement in symptoms 2 days later with resolution of macular edema. Conclusions: Here we report a case of Purtscher-like retinopathy after a bowel movement. Although the exact mechanism of Purtscher-like retinopathy is unknown, there are multiple reports of Purtscher-like retinopathy after extreme events involving Valsalva, such as during weightlifting, and we postulate that this presentation is likely of similar pathophysiology.

Kearns-Sayre Syndrome Masquerading as Myasthenia Gravis.

PURPOSE: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion syndrome that is characterized by the triad of onset commonly before age twenty, pigmentary retinopathy, and chronic progressive external ophthalmoplegia. Here we present a case of KSS masquerading as myasthenia gravis (MG). METHODS: Case report. RESULTS: A 15-year-old male with a presumed diagnosis of MG presented with blurry vision, ophthalmoplegia, and ptosis. He was found to have a mitochondrial pigmentary retinopathy and was eventually diagnosed with KSS after mtDNA sequencing revealed a novel large-scale deletion of 7.9kb of mtDNA from nucleotides 6578 to 14,460. CONCLUSIONS: We report a case of KSS found to have a novel large-scale mtDNA deletion. The presence of a mitochondrial pigmentary retinopathy found on dilated examination led to reconsideration of the previous diagnosis of MG and ultimately led to the correct diagnosis of KSS.

Outcomes of vitrectomy for diabetic tractional retinal detachment in Chicago's county health system.

PURPOSE: To examine outcomes of 23-gauge (23G) pars plana vitrectomy (PPV) for complex diabetic tractional retinal detachment (TRD) in Chicago's Cook County Health and Hospitals System (CCHHS). MATERIALS AND METHODS: This is a retrospective noncomparative study of diabetic TRD cases that underwent PPV at CCHHS. Primary retinal reattachment rate, visual function, and postoperative complications were analyzed. RESULTS: Sixty nine consecutive cases were included. Primary reattachment and final attachment were achieved in 68/69 eyes (98.6%). Secondary retinal detachment was noted in 1 eye (1.4%). Vitreous hemorrhage requiring repeat PPV developed in 5 eyes (7.2%) and reoperation due to other complications was required in 4/69 eyes (5.8%). Perfluoropropane (C3F8) gas tamponade was used in 91.3% of eyes and silicone oil in 8.7% of eyes. Mean LogMAR visual acuity significantly improved from 1.84 ± 0.61 to 0.93 ± 0.66, (P<0.0001). Vision was stabilized or improved in 66 eyes (95.7%). Visual acuity of 20/200 or better was achieved in 49/69 eyes (71.0%) and 20/50 or better in 16/69 eyes (23.2%). CONCLUSIONS: Even in patients with severe and advanced diabetic TRD pathology and unique demographics as seen in CCHHS, modern vitrectomy techniques can provide excellent anatomical and visual outcomes.

Macular Hole Formation After Pars Plana Vitrectomy for Diabetic Tractional Retinal Detachment.

BACKGROUND AND OBJECTIVE: To investigate the incidence, clinical features, and outcomes of patients with macular hole (MH) formation after pars plana vitrectomy (PPV) for diabetic tractional retinal detachment (TRD). PATIENTS AND METHODS: We conducted a retrospective review of all cases of PPV for diabetic TRD performed by a surgeon (DS) at a large county hospital between November 2013 and August 2016. RESULTS: Ninety consecutive eyes of 79 patients were included in this case series, of which four eyes developed MH, yielding an incidence of 4.4% (95% confidence interval [CI], 1.2%-11.0%). The mean interval between PPV for TRD and MH formation was 7.0 ± 5.5 (mean ± 1 standard deviation) months, and mean follow-up time was 29.6 months ± 6.9 months. Three of the four eyes that developed MH underwent intervention, and of the three that underwent intervention, all had successful hole closure. CONCLUSION: In this case series, the incidence of MH after PPV for TRD is 4.4% (95% CI, 1.2%-11.0%). The mechanism of MH formation after diabetic TRD repair is not certain but may be related to a taut internal limiting membrane, epiretinal membrane formation, macular edema, or residual vitreous contraction. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:e256-e262.].

Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.

PURPOSE: Congenital cataracts occur in isolation in about 70% of cases or are associated with other abnormalities such as anterior segment dysgenesis and microphthalmia. We identified a three-generation family in the University of California San Francisco glaucoma clinic comprising three individuals with congenital cataracts and aphakic glaucoma, one of whom also had microphthalmia. The purpose of this study was to identify a possible causative mutation in this family and to investigate its pathogenesis. METHODS: We performed exome sequencing and identified a putative mutation in gap junction protein α8 (GJA8). We used PCR and DNA sequencing of GJA8 in affected and unaffected members of the pedigree to test segregation of the variant with the phenotype. We tested cellular distribution and function of the variant protein by immunofluorescence and intercellular transfer of Neurobiotin in transiently transfected HeLa cells. RESULTS: Exome sequencing revealed a variant in GJA8 (c.658A>G) encoding connexin50 (Cx50) that resulted in a missense change (p.N220D) in transmembrane domain 4. The variant was present in all three affected family members, but was also present in the proband's grandfather who was reported to be unaffected. The mutant protein localized to the plasma membrane and supported intercellular Neurobiotin transfer in HeLa cells. CONCLUSIONS: We identified a variant in transmembrane domain 4 of Cx50 in a family with autosomal dominant congenital cataracts. This variant has been previously identified in other cataract cohorts, but it is also present in unaffected individuals. Our study demonstrates that the mutant protein localized to the plasma membrane and formed functional intercellular channels. These data suggest that GJA8 c.658A>G is most likely a benign rare variant.