Mindaugas Variakojis¹, Vaiva Mačionienė²

 

¹ Lithuanian University of Health Sciences, Kaunas, Lithuania.

² Department of Ophthalmology at the Kauno Klinikos Hospital of Lithuanian University of Health Sciences

Abstract

Anderson-Fabry disease, a rare metabolic disorder of lysosomal accumulation associated with the X chromosome. The cause is a mutation in the GLA gene. There is a decrease in the functional activity of the enzyme alpha-Galactosidase-A, which leads to a disorder of glycosphingolipid metabolism. Undegraded products, usually globotriaosylceramides, accumulate in the cells of various organs. Pathophysiological changes and clinical signs develop in the eyes, heart, kidneys and other organs. Multisystemic manifestation and non-specific symptoms complicate the diagnosis of the disease. Despite prenatal diagnosis, genetic testing, and other diagnostic options, Fabry disease is detected late. The atypical form of the disease is common in women, but the course of the disease in men is more severe. More than a thousand mutations in the GLA gene have now been identified. In rare cases, De novo mutations are detected. All this requires cooperation between specialists in various fields, systematic perception of the disease. The main treatment for a rare disease is enzyme replacement therapy. Despite the marked effectiveness of treatment, it is especially important to start treatment as early as possible. This is closely related to the early diagnosis of the disease. Specific changes in the cornea, cornea verticillata, are considered a specific, most common sign of Fabry disease. Properly differentiated with concomitant medications such as amiodarone, ophthalmologists can make a significant contribution to formulating an early diagnosis of Fabry disease.

Keywords: Fabry disease, cornea verticillata, ocular manifestations, GLA mutations, later-onset Fabry disease.