Mitochondrial A3243G mutation results in corneal endothelial polymegathism.

PURPOSE: The mitochondrial DNA point mutation A3243G leads to a spectrum of syndromes ranging from MIDD to MELAS. Ocular manifestations include pattern macular dystrophy and concentric perifoveal atrophy. Given the high metabolic demand of corneal endothelial cells, we performed specular biomicroscopy analysis in patients harboring the mitochondrial DNA point mutation A3243G to assess for the associated presence of corneal endothelial abnormalities. METHODS: We present a case series with participants from two institutions. Patients diagnosed with macular dystrophy associated with MIDD or MELAS, and the mitochondrial DNA point mutation A3243G were recruited. Exclusion criteria included a prior diagnosis, or a positive family history, of endothelial corneal dystrophy. Slit-lamp corneal examination and specular biomicroscopy were performed. Corneal endothelial cell count, cell size and polymegathism, and central corneal thickness were assessed. Patients diagnosed with MIDD or MELAS based on clinical history and examination were genetically tested for the mitochondrial DNA point mutation A3243G using pyrosequencing. RESULTS: Five patients (two male and three female participants) from five different families, and with different ethnic backgrounds, met the inclusion criteria. Their ages ranged from 41 to 60 years. Corneal endothelial changes observed using slit-lamp examination were primarily mild to rare guttata. Specular biomicroscopy displayed mainly polymegathism associated with guttata. The average endothelial cell count was 2358 ± 456 cells per mm2, the average endothelial cell size was 442 ± 103 µm2 and the average central corneal thickness (CCT) was 551 ± 33 µm. These values were similar to that of the average population. The average coefficient of variation (COV), an index of heterogeneity in cell size, was 42.0 ± 4.1%. When compared to the average population, the average COV was significantly higher than predicted for the patients' age. None of the patients had signs of corneal edema. One patient had a pre-Descemet's opacity. CONCLUSIONS: In patients with the mitochondrial DNA point mutation A3243G, corneal endothelial polymegathism is present. This is mainly associated with mild guttata. The findings of corneal endothelial cell polymegathism may be a biomarker of mitochondrial disease, specifically in patients with the mitochondrial DNA A3243G mutation.

Randomized Prospective Evaluation of Microblepharoexfoliation BlephEx as Adjunctive Therapy in the Treatment of Chalazia.

PURPOSE: Chalazia are benign eyelid lesions caused by the obstruction and inflammatory reaction of the meibomian glands. Demodex mites are one potential cause of chalazia leading to mechanical obstruction of the meibomian gland. In this prospective randomized study, we examine a novel approach to treating chalazia with the use of microblepharoexfoliation (MBE), an in-office lid hygiene technique that exfoliates the eyelid margins. METHODS: Fifty patients with clinical evidence of acute chalazion were enrolled in this study. Subjects were randomly assigned to a MBE plus lid hygiene group (23 patients, mean age 66.6 ± 16.6 years) or a lid hygiene alone group (27 patients, mean age 62.1 ± 14.4). The MBE plus lid hygiene group received MBE treatment and were evaluated 1 month after the baseline visit. The main outcome measured was the resolution of the chalazion at the 1-month follow-up visit. RESULTS: The lid hygiene plus MBE treatment group demonstrated a statistically significant resolution of the chalazion compared with the lid hygiene group alone ( P = 0.007; chi-square test). Among the MBE plus hygiene group, 87% of the patients had resolution of their chalazion as opposed to the lid hygiene alone group, which had 44% resolution. CONCLUSIONS: This is the first prospective, randomized clinical trial that demonstrated efficacy of MBE as a noninvasive adjunctive treatment method for chalazion resolution.

Ocular and orbital manifestations of granulomatosis with polyangiitis: a systematic review of published cases.

Objective: Granulomatosis with polyangiitis (GPA) is an autoimmune disorder characterized by necrotizing granulomatous inflammation of small and medium-sized vessels. This systematic review aimed to highlight the most common ophthalmic manifestations and to uncover their associations with antineutrophil cytoplasmic antibody (ANCA) positivity and the presence of granulomas. Methods: A literature search of PubMed, Web of Science, and Scopus electronic databases was performed from journal inception to March 21, 2021, for case reports and a series of ophthalmic GPAs. Cytoplasmic-ANCA (c-ANCA), perinuclear-ANCA (p-ANCA), and granulomas were analyzed against many ophthalmic signs and symptoms. 306 patients with GPA were retrospectively studied. Results: Granulomas were present in 47.7% of our sample, c-ANCA in 59.2%, and p-ANCA in 10.8%. Scleritis was significantly associated with higher odds for c-ANCA positivity. Eye discharge, episcleritis, proptosis, and central nervous system (CNS) involvement were each significantly associated with lower odds for c-ANCA positivity. Orbital mass was significantly associated with lower odds for p-ANCA positivity. CNS involvement was significantly associated with higher odds for p-ANCA positivity (OR:3.08, 95% CI:1.02, 9.36, p=0.047) and orbital mass was significantly associated with lower odds for p-ANCA positivity. Conclusions: We recommend that clinicians should consider ocular or orbital GPA in patients presenting with non-specific eye complaints, such as vision impairment, orbital mass, or proptosis, and obtain further assessments to determine the possible presence of granuloma, c-ANCA, or p-ANCA. Abbreviations: GPA = Granulomatosis with Polyangiitis, ANCA = antineutrophil cytoplasmic antibody, c-ANCA = cytoplasmic-ANCA, p-ANCA = perinuclear-ANCA, CNS = central nervous system, AAVs = ANCA-associated vasculitides, SD = standard deviation, GU = genitourinary, ENT = ear nose and throat, OR = odds ratio, CI = confidence interval.

Bell's palsy with Herpes simplex disciform keratitis: A case report.

Purpose: To report a novel case of unilateral peripheral facial nerve palsy manifesting as a complication of Herpes simplex keratitis. Observations: A 51-year-old immunocompetent male presented with severe eye pain for 3 weeks. He was found to have Herpes simplex keratitis in the left eye and started on valacyclovir 3g per day for 10 days. At three weeks his pain and blurred vision resolved. He returned 2.5 months later with worsening of vision and five days of unilateral facial numbness and weakness. Ocular evaluation revealed a visual acuity of 20/25 in the left eye, which showed mid-stromal corneal edema bordered by several keratoprecipitates. Both the keratitis and Bell's palsy markedly improved with valacyclovir, topical prednisolone, and a 10-day course of oral prednisone. Conclusions and Importance: This is the first reported case of Bell's palsy accompanying disciform keratitis. Both entities have been observed to be caused by Herpes simplex, however they have not been described together in one patient. Knowledge that these conditions may present simultaneously allows for earlier identification and treatment, resulting in decreased morbidity.

Micropulse laser trabeculoplasty and reduction of intraocular pressure: A preliminary study.

PURPOSE: The purpose of the study was to measure the change in intraocular pressure (IOP) after micropulse laser trabeculoplasty (MLT) and to evaluate subgroups based on initial IOP and severity of glaucoma. METHODS: This was a retrospective study of 34 eyes that were treated with MLT. Follow-up measurements were obtained at 3 months. Paired t-tests compared baseline to follow-up. RESULTS: IOP reduction approached significance (P = 0.055) for lower mean IOP from pre- to post-treatment. In the subset of those with baseline IOP >16, mean IOP was significantly lower (P = 0.001) from pretreatment (mean = 19.43, standard deviation [SD] = 2.48) to posttreatment (mean = 16.91, SD = 3.37). There were 34.8% (8/23) with a 20% reduction from baseline IOP. For patients with no glaucoma/early glaucoma, mean IOP was significantly lower (P = 0.003) from pretreatment (mean = 19.62, SD = 3.36) to posttreatment (mean = 16.62, SD = 3.01). In the subset of those with moderate/advanced glaucoma, there were no significant changes for mean IOP from pretreatment to posttreatment. CONCLUSION: Patients with higher initial IOP and in the early stages of glaucoma were more likely to benefit from MLT in lowering IOP. A randomized clinical trial is necessary to confirm these preliminary findings. We recommend that clinicians should consider MLT in the management of early glaucoma and among those with IOP >16 mmHg.

Internuclear Ophthalmoplegia Secondary to Cocaine Abuse.

Purpose. To report a case of internuclear ophthalmoplegia (INO) caused by cocaine. Method. We report a case of a 54-year-old female who presented with a left INO three days after snorting cocaine, and we review the literature. Results. MRI of the brain demonstrated several small abnormal foci in the pons on FLAIR and diffusion weighted imaging consistent with ischemic infarction. The patient's symptoms remained stable throughout her hospitalization. She was sent to a rehabilitation facility and was lost to follow-up. Conclusion. In cases of extraocular movement abnormalities, it is important to inquire about recreational drug use.

Ocular manifestations of TASER-induced trauma.

A young adult male experienced penetrating globe injury due to a Thomas A. Swift Electric Rifle (TASER). Despite successful repair of the globe, the damage was profound. This case report explores the complex ways in which mechanical and electrical forces from a TASER may impact the structural integrity and the neurosensory structures of the eye.