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The m.3243A>G variant in the MTL1 gene is a DNA point mutation which has been shown to cause a variety of diseases including retinal abnormalities. We report on the ophthalmologic phenotype and systemic findings in a new patient with this mutation, presenting with sensorineural hearing loss, diabetes and macular dystrophy. We characterized the retinal phenotype with a multimodal approach and throughout the follow-up period we observed sustained centripetal progression of the areas of chorioretinal atrophy. [ABSTRACT FROM AUTHOR]

Given the increasing incidence of obesity, bariatric procedures are gaining attention during the past decades, being one of the most effective methods of long-term weight loss. Nutritional optic neuropathy (NON) following bariatric surgeries is a rare but devastating complication caused by a complete lack or inadequate supply of nutrients for the normal function of nerve fibers. We report a case of bilateral anterior NON after a Single Anastomosis Duodenoileal Bypass with Sleeve Gastrectomy, and present a review of the literature about neuro-ophthalmic complications associated with these procedures. Bariatric surgery may constitute an established risk factor for NON and both patient and physician have to be aware of the importance of closely monitoring vitamin depletions and neurologic and visual symptoms. [ABSTRACT FROM AUTHOR]

Ocular surface complications secondary to continuous positive airway pressure (CPAP) machines have been previously reported such as ocular irritation, dry eye disease, lid laxity, and floppy eyelid syndrome. No severe ocular complications have been specified in the literature. We report a serious ocular complication in a patient under helmet CPAP (hCPAP). A 68-year-old male with COVID-19 pneumonia required ventilatory support with hCPAP. Following 5 days, the patient started complaining of ocular discomfort, purulent discharge in his left eye, and ocular dryness upon awakening. Ophthalmological examination showed no light perception in the left eye and slit-lamp biomicroscopy revealed atalamia, loss of corneal transparency with superior infiltrates, and a total epithelial defect with iris herniation and a central perforation. Considering the patient's progressive worsening clinical condition, with a painful blind eye, left evisceration was performed. It is important to be aware of possible ophthalmological complications related to ventilation since prompt diagnosis and treatment can avoid poor visual outcomes. In this clinical case, we faced a serious ocular complication following hCPAP ventilation. [ABSTRACT FROM AUTHOR]

We present the case report of a 6-year-old girl with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis associated with bilateral optic neuritis. She initially presented with disturbing behaviors and gait impairments and was hospitalized in the context of meningoencephalitis, without agent isolation and with inconclusive laboratory tests. After discharge, she noted a loss of vision with impaired color sensation and returned to the emergency department. Her best-corrected visual acuity was 20/400 in both eyes, and fundoscopy revealed bilateral optic disc edema. She was hospitalized once again. Anti-NMDAR antibodies were detected in serum and cerebrospinal fluid. The patient was successfully treated with a pulse of methylprednisolone, followed by a tapering regimen of prednisolone. She recovered to 20/20 vision in the right eye and left eye. Our report highlights additional aspects of anti-NMDAR encephalitis in children and suggests that the disease could present atypical visual manifestations, which requires multidisciplinary approaches. [ABSTRACT FROM AUTHOR]

A 43-year-old man presented with a decrease of vision in the left eye after blunt ocular trauma. Visual acuity was of 20/20 in the right eye and 20/100 in the left eye. Fundus examination revealed a choroid rupture and submacular hemorrhage. Three months after the trauma, it was evident the development of choroidal neovascularization (CNV). A serie of intravitreal injections of ranibizumab were initiated. The optical coherence tomography angiography (OCTA) demonstrated to be better than fluorescein angiography (FA) to show evidence of CNV, and was essential to follow up the progression and guide therapeutic decisions. Decision for treatment based on OCTA findings lead to an excellent visual acuity outcome with visual acuity of 20/25 seven months after the trauma. [ABSTRACT FROM AUTHOR]

Introduction: Idiopatic Macular Telangiectasia (IMT) are a rare group of various entities presenting with incompetence, ectasia and/or irregular dilations of the juxtafoveolar capillaries of one or both eyes. Case Report: A 62 year old female with Glaucoma was sent to the Retina Department with a suspected diagnosis of retinal vein occlusion on the left eye (LE). Her best corrected visual acuity (BCVA) was 20/20 in the right eye (RE) and 20/25 in the LE. Slit lamp examination was normal; fundoscopy showed a cup-to-disc relation of 0.6 in the RE with normal macula and a cup-todisc relation of 0.7 in the LE with multiple perifoveal microaneurysms, inferior temporal hard exudates and edema comproved with macular optical coherence tomography; fluorescein angiography revealed an area of hyperfluorescence with juxtafoveolar telangiectatic vessels located inferiorly and temporally to the fovea, with progressive filling and late active leakage in the LE. The diagnosis of IMT type 1 was made and she was treated with a loading dose of intravitreal injections of ranibizumab followed by a fourth injection because of persistent macular edema. One month after, her BCVA was 20/20 in the LE with improvement of macular edema and macular árgon laser photocoagulation was performed. Three months after the laser treatment her LE BCVA was 20/20 with fundoscopy showing small macular hemorrhages and microaneurysms. Conclusion: Macular edema and exudation are the main cause of visual loss in these patients. This case suggests that ranibizumab and laser photocoagulation can be effective in the treatment of type 1 IMT. [ABSTRACT FROM AUTHOR]

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