Retinal Degeneration Associated With the G1606A Mitochondrial Mutation.

The guanine-to-adenine substitution at nucleotide 1606 (G1606A) mutation in the mitochondrial DNA transfer RNA-valine gene has been reported to cause sensorineural deafness, ataxia, myoclonus, seizures, and mental retardation. This study hereby presents a single case report of a new retinal phenotype associated with this mutation: a middle-aged woman with retinal pigment epithelium stippling, atrophy, and peripapillary (retinal pigment epithelium) dropout on fundus examination. The patient was administered an empiric trial of a mitochondrial cocktail with close monitoring of her systemic symptoms. This study identified a novel G1606A mutation to cause early-onset macular pathology resembling that previously described in the A3243G mutation. [Ophthalmic Surg Lasers Imaging Retina. 2022;53:116-119.].

Primary mediastinal large B-cell lymphoma in a patient on Fingolimod for relapsing-remitting multiple sclerosis.

BACKGROUND: There are multiple case reports in the literature describing an association between fingolimod and cutaneous neoplasms. OBJECTIVE: Investigate and report a case of a primary mediastinal large B-cell lymphoma in a patient on fingolimod for Relapsing-Remitting Multiple Sclerosis (RRMS). METHODS: Case Report. RESULTS: The patient developed a primary mediastinal large B-cell lymphoma after seven years of treatment with fingolimod. The patient is currently in complete remission after cessation of treatment, surgical resection, chemotherapy, and radiation therapy. CONCLUSION: This case report highlights the first primary mediastinal large B-cell lymphoma associated with fingolimod treatment. It should be considered a rare, but potential adverse effect of fingolimod.