RESUMEN
PURPOSE: To investigate the rare manifestation of retinal vasculitis in Familial Mediterranean fever (FMF) and its correlation with specific gene mutations, particularly the MEFV gene, with a focus on the severity of phenotypes and systemic vasculitis. METHODS: A case report of a 45-year-old Armenian patient with FMF history and dual mutations (M680I and M694V) was analyzed. Clinical assessments, including ocular examinations, were conducted at various stages of the disease. Treatment modalities, including prednisone, Anakinra, and Canakinumab, were administered and their effectiveness was assessed. RESULTS: The patient presented with bilateral ocular pain and decreased vision, exhibiting acute anterior uveitis, perivascular hemorrhages resembling Roth spots, and subsequent features of persistent vascular sheathing and cotton-wool spots. Dual mutations, especially M694V, were associated with a severe phenotype and systemic vasculitis. Treatment with prednisone induced remission, and IL-1 pathway inhibition with Anakinra and Canakinumab successfully managed relapses. CONCLUSION: This case underscores the rarity of retinal vasculitis in FMF, particularly involving arteries, and highlights the correlation between specific gene mutations (M680I, M694V) and disease severity. The successful management with IL-1 pathway inhibitors suggests a potential therapeutic approach. Increased clinical awareness, further research, and reporting are crucial for optimizing the understanding and treatment of FMF-related ocular manifestations.
RESUMEN
BACKGROUND: Candida endophthalmitis is a severe complication of candidemia. Currently, the recommended treatment of fungal endophthalmitis is a combination of intravitreal and systemic antifungal drugs, and in some cases vitrectomy is also required. Intravitreal therapies that are commonly used are amphotericin B and voriconazole, although recently the use of intravitreal caspofungin has been described in a few case reports. However, clinical experience with intravitreal caspofungin is still limited. CASE PRESENTATION: We report a case of bilateral candida tropicalis endophthalmitis, initially managed with repeated 100 µg/0.1 ml caspofungin intravitreal injections and posteriorly treated with pars plana vitrectomy in both eyes. CONCLUSIONS: Intravitreal caspofungin could be a safe intravitreal alternative to habitual antimycotic drugs in cases with resistant candida endophthalmitis.Abbreviations: Intensive Care Unit (ICU); Best-Corrected Visual Acuity (BCVA).
RESUMEN
BACKGROUND: Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye. Dysfunction of ocular muscles, ptosis and cataract are the most common ophthalmologic manifestations, but it can also present with pigmentary changes in the retina. This report presents and discusses an unusual case of a pigmented pattern dystrophy simulating a fundus flavimaculatus in a patient with myotonic dystrophy. CASE PRESENTATION: We present a case of a woman with a history of myotonic dystrophy and complaints of progressive vision loss who presented bilateral retinal pigmentary changes in posterior pole and midperiphery. The characteristics and distribution of pigmented deposits, as well as ancillary tests, showed a retinal phenotype compatible with a multifocal pattern dystrophy or a fundus flavimaculatus. CONCLUSIONS: There are a few publications about retinal disorders in patients with myotonic dystrophy. When macular area is affected it tends to adopt a patterned-shape defined as butterfly dystrophy or reticular dystrophy. To our knowledge, this is the first report of a patient with myotonic dystrophy and multifocal pattern dystrophy or fundus flavimaculatus.
