[Clinical and morphological changes in the eye in Fabry's disease (a clinical case study)]

The article presents a clinical case of Fabry's disease accompanied by changes in the eye and gives detailed description of standard ophthalmological examination and results of some modern methods of assessing macro- and micro-structure of certain ocular tissues. Fabry's disease (also known as Anderson-Fabry disease, diffuse angiokeratoma of the body, hereditary dystonic lipidosis) is a progressive hereditary multi-systemic disease; more specifically, it is a progressive congenital defect in the metabolism of tissues of the human body. It is included in the list of orphan diseases. One of its local manifestations is development of dystrophic changes in the structure of the cornea with tendency to progress. Early diagnosis of Fabry's disease is crucial, but its extensive and 'mixed' symptoms often mask the true causes of pathological changes, which leads to late diagnosis.