- Autosomal dominant optic atrophy (ADOA) is the most common hereditary optic neuropathy, manifesting in approximately 1 in 50 000 people, and up to 1 in 10 000 in Denmark, owing to a founder mutation.1 Isolated ADOA typically manifests in the first 2 decades of life as bilateral painless progressive vision loss and is therefore mostly diagnosed in childhood to young adulthood. We present a series of 2 older patients, aged 63 and 64 years, who had delayed ADOA diagnosis as proband patients in their families, emphasizing the point that chronological age should not be the sole determining factor for ordering testing for ADOA in cases of unexplained optic neuropathy.
- Papillary carcinoma of the thyroid gland (PCTG) constitutes 80%–85% of thyroid cancers globally. Despite early lymphatic invasion, PCTG has a relatively indolent course and rarely metastasizes outside of the neck.1 Metastasis to the brain from PCTG is even more uncommon and usually occurs in the context of widely disseminated disease. While the mainstay of treatment for intracranial metastasis from PCTG includes surgical excision and radiotherapy, recent advances into our understanding of the molecular pathways governing PCTG have facilitated development of novel targeted chemotherapeutics.
- Murine typhus is an acute infection transmitted by rodent or cat fleas carrying gram-negative, obligate intracellular bacteria, Rickettsia typhi. This vector for transmission is most often carried on rodents, but opossums are thought to be a reservoir in suburban settings.1 Associated with overcrowding, pollution, and poor hygiene, murine typhus has been documented worldwide, but the majority of cases in the United States are in Texas and California.2
- Anti-glutamic acid decarboxylase (anti-GAD) autoantibody syndrome produces symptoms and signs related to loss of the inhibitory neurotransmitter gamma aminobutyric acid. Patients with GAD antibody may present with hyperexcitability disorders, including stiff-person syndrome, limbic encephalitis, and nystagmus. There has been only one previous report of convergence spasm in a patient with GAD antibody. Here we present a case of convergence spasm and, to our knowledge, the first case in the English-language ophthalmic literature to have concomitant horizontal nystagmus, in a patient with anti-GAD65 antibody syndrome.