ABSTRACT
This retrospective patient report describes a unique case of cerebral venous sinus thrombosis arising from hormonal contraceptive use, and the management of said thrombosis and its secondary ophthalmic manifestations. The patient initially presented with significant visual decline, headaches, florid disc oedema, and vessel tortuosity, due to extensive sinus thromboses that were causing increased intracranial pressure. It was determined that the root cause of the thrombosis was the use of injectable medroxyprogesterone acetate, leading to a hypercoagulable state. Optic nerve sheath fenestration was performed for this patient as an early intervention. The patient, though ultimately experiencing some vision loss, was able to recover and retain limited unilateral central vision, despite a protracted hospital course. We hope to propose that optic nerve sheath fenestration, in conjunction with anti-coagulation therapy, may be a consideration for patients with similar presentations on an individualised basis, in order to prevent vision loss from cerebral venous sinus thrombosis. Though studies are limited, we believe early intervention may be what allowed our patient to retain some central vision, and suggest more studies be done into the utility of this procedure for patients with this clinical vignette.
ABSTRACT
PURPOSE: To assess for activation of the unfolded protein response in corneal endothelium of Fuchs endothelial corneal dystrophy patients. DESIGN: Retrospective, comparative case series of laboratory specimens. METHODS: Corneal specimens of patients with Fuchs dystrophy and controls with corneal pathologic features other than Fuchs dystrophy were evaluated by transmission electron microscopy (TEM) to evaluate for structural changes of the rough endoplasmic reticulum in corneal endothelium. TEM images were evaluated for alterations of rough endoplasmic reticulum as a sign of unfolded protein response. Normal autopsy eyes, Fuchs dystrophy corneas, and keratoconus corneas were used for immunohistochemistry. Immunohistochemistry was performed on formalin-fixed, paraffin-embedded sections of patient corneas for 3 unfolded protein response markers (GRP78, the alpha subunit of eukaryotic initiation factor 2, C/EBP homologous protein) and 2 apoptosis markers (caspase 3 and 9). Immunohistochemistry signal quantitation of corneal endothelium for evaluation of marker expression was performed using automated software. Corneal sections were assessed quantitatively for levels of immunohistochemistry marker expression. RESULTS: TEM showed enlargement of rough endoplasmic reticulum in corneal endothelium of all Fuchs dystrophy specimens. Immunohistochemistry quantitation demonstrated a significant increase in mean signal in corneal endothelium from Fuchs dystrophy patients for markers GRP78, the alpha subunit of eukaryotic initiation factor 2, C/EBP homologous protein, and caspase 9 compared with non-Fuchs dystrophy corneas (P < .05). CONCLUSIONS: Results of both TEM and immunohistochemistry indicate activation of unfolded protein response in Fuchs dystrophy. Unfolded protein response activation leads to endothelial cell apoptosis in Fuchs dystrophy and may play a central pathogenic role in this disease.
