Bilateral nonarteritic ischemic optic neuropathy and retinal ischemia in a pediatric dialysis patient.

A nearly 3-year-old boy on nightly dialysis presented emergently with sudden loss of vision. On examination, his visual acuity was light perception in the right eye and no light perception in the left eye. There was bilateral optic disk edema, diffuse pallor of posterior poles, and a cherry red spot in the left fundus. The patient was subsequently found to be hemodynamically unstable and admitted to the pediatric intensive care unit with presumed septic shock. Optical coherence tomography revealed paracentral acute middle maculopathy lesions in the right eye and diffusely thick retina in the left eye. Magnetic resonance imaging and magnetic resonance angiography of the brain and vessels did not reveal any acute findings. The patient's presentation was most consistent with bilateral nonarteritic ischemic optic neuropathy and unilateral central retinal artery occlusion. On repeat evaluation 9 months later, vision was largely unchanged.

Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease.

BACKGROUND: In 2020, a new disease was reported by Polovitskaya et al., caused by a monoallelic, gain-of-function mutation in CLCN6, encoding the ClC-6 Cl-/H±exchanger. METHODS: Here, we report the ophthalmic findings of one of the first three patients with this disease (the proband) and review the findings in the other two patients in the literature. RESULTS: The CLCN6 gene is part of the voltage-dependent chloride channel protein family. It functions as either a chloride channel aiding in cell-volume regulation and acidification of intracellular organelles or as an antiporter, which are membrane proteins involved in the transport of molecules across a phospholipid membrane. This particular gene is found in late endosomes. Ion transport across endosome membranes is essential for endosomal function. The proband carried a de novo c.1658A>G (p.Tyr553Cys) mutation in CLCN6. The patient reported herein has a notable optic nerve appearance. The nerve initially appeared elevated. Over time, the optic nerve elevation appearance decreased, associated with progressive vision loss with a visual acuity of 20/470 at last follow-up. CONCLUSION: While Clcn6-/- mice have been found to have a mild neuronal lysosomal storage phenotype, the three reported children with a de novo c.1658A>G (p.Tyr553Cys) variant displayed significant developmental delay and neurodegeneration.

Long-term retinal vasculature abnormalities following intravitreal bevacizumab for retinopathy of prematurity.

PURPOSE: To report long-term fluorescein angiography (FA) findings in consecutive patients with type 1 retinopathy of prematurity (ROP) treated with intravitreal bevacizumab (IVB), whose ROP seemed to have resolved clinically. METHODS: Data were retrospectively collected for all patients with IVB-treated type 1 ROP who underwent an exam under anesthesia (EUA) and FA at 60 weeks post-gestational age (PGA) or older at a tertiary medical center between 2011 and 2020. FA results were reviewed for pathological vascular findings. RESULTS: Twenty-nine eyes of 16 patients were included. Mean gestational age and birth weight were 25.3 ± 1.5 weeks and 762.2 ± 189.8 g, respectively. The mean age at the time of EUA and FA was 23.4 ± 15.8 months. All eyes had a peripheral avascular zone and irregular peripheral branching. Vascular loops were seen in 27 eyes (93.1%) and vascular bulbs and anastomoses in 16 eyes each (55.2%). Additional abnormal findings included leakage (10 eyes, 34.5%), vessels crossing the fovea (5 eyes, 17.2%), tortuous arteries and veins (9 eyes, 31%, and 5 eyes, 17.2%, respectively), and neovascularization (2 eyes, 6.9%). When comparing patients who were less than or greater than 70 weeks PGA at follow-up, FA findings in the group with shorter follow-up were significant for more anastomoses and vascular bulbs (p = 0.002 and p = 0.024, respectively) and trended towards more leakage (45.5% vs. 27.8%, p = 0.331). CONCLUSION: The vast majority of IVB-treated type 1 ROP eyes suffered from vascular pathologies long after treatment. There may be long-term progression in the vascularization process of the retina in some cases.

Dacryoadenitis Caused by Blastomycosis: A Case Report.

This is the first case of histopathologically proven blastomycosis involving the lacrimal gland. A 51-year-old woman with a history of disseminated blastomycosis involving her lungs and skin, on oral itraconazole, presented with 3 days of right upper eyelid swelling, erythema, and pain concerning for recurrent dacryoadenitis. MRI showed enlargement of the right lacrimal gland with a cystic lesion at the anterior aspect of the gland with a radiographic differential diagnosis of abscess versus cyst. After no improvement with intravenous antibiotics, orbitotomy with lacrimal gland biopsy and incision and drainage of the cystic lesion were performed. Culture and pathology of the drained fluid demonstrated an abscess with both viable and nonviable broad-based budding yeast consistent with partially treated blastomycosis. The patient's symptoms improved after the surgery and continued itraconazole therapy.

Macular sub-layer thinning and association with pulmonary function tests in Amyotrophic Lateral Sclerosis.

Amyotrophic Lateral Sclerosis (ALS) is a complex neurodegenerative disorder that may have anterior visual pathway involvement. In this study, we compare the macular structure of patients with ALS to healthy controls, and examine correlations between macular sub-layer thickness measurements and pulmonary function tests and disease duration. ALS patients underwent optical coherence tomography (OCT) imaging to obtain macular cube scans of the right eye. Macular cube OCT data from age-matched healthy subjects were provided by the OCT reading center. Semi-automated retinal segmentation software was used to quantify macular sub-layers. Pulmonary function tests and time since symptom onset were collected retrospectively from the electronic medical records of ALS patients. Macular retinal nerve fiber layer was significantly thinner in ALS patients compared to healthy controls (P < 0.05). Total macular and other sub-layer thicknesses were not reduced in the ALS cohort. Macular retinal nerve fiber layer thickness positively correlated with forced vital capacity % predicted and forced expiratory volume in 1 second % predicted (P < 0.05). In conclusion, analysis of OCT measurements supports the involvement of the anterior visual pathway in ALS. Subtle structural thinning in the macular retinal nerve fiber layer correlates with pulmonary function tests.