SD-OCT Imaging of Macular Changes in Fabry Disease: A Case Report.

Fabry disease (FD) is a rare, X-linked lysosomal storage disorder that can result in fatal end-stage renal disease, heart failure, and cerebro-occlusive events. Vague clinical symptoms and rarity often mean diagnosis and potential treatment is delayed. Ophthalmic findings in FD patients can be helpful in establishing an early diagnosis and timely treatment.

Fundus Autofluorescence in Maternally Inherited Diabetes and Deafness: The Gold Standard for Monitoring Maculopathy?

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disease associated with dysfunction of the retinal pigment epithelium and photoreceptor outer segments in a peri-foveal arrangement. If chorioretinal atrophy develops, patients risk losing vision. We retrospectively analysed three patients with genetically proven MIDD, assessing atrophy size and progression using overlay in photoshop.

Optic nerve sheath meningiomas: prevalence, impact, and management strategies.

Optic nerve sheath meningiomas are rare benign neoplasms of the meninges surrounding the optic nerve. They are a significant cause of morbidity. While the mortality rate is practically zero, these tumors can blind or disfigure patients.

Gamma-aminobutyric acid-B limbic encephalitis and asystolic cardiac arrest: a case report.

Background: Gamma-aminobutyric acid-B receptor autoantibodies are becoming an increasingly recognized contributor to the spectrum of autoimmune limbic encephalitis. They are classically associated with seizures and behavioral disturbance, and may coexist with other autoantibodies. Many are paraneoplastic, most commonly associated with small cell lung cancer.