Córnea verticilata - marcador clínico da doença de Fabry: relato de caso

Abstract

Fabry's disease is a rare X-linked lysosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvement, cerebrovascular manifestations. A family with Fabry's disease including 2 female patients and 3 male patients is reported. The patients were submitted to complete medical history, ophthalmological examination and alpha-galactosidase activity test. Cornea verticillata was a constant finding in all patients. This demonstrates the important role of the ophtalmological examination for the diagnosis of Fabry's disease since the eye findings are so characteristic of the disease.

Fabry disease: integrative aspects from diagnosis to treatment

“…Although in initial studies the main cause of death in SCD was renal dysfunction after the advent and advances in ERT, the main cause of death became cardiovascular disease (CVD). An increase in the quality and life expectancy of these patients has also been also observed (Cordeiro et al, 2007).…”

Fabry disease - importance of screening in cornea verticillata: case report

“…Many female carriers have normal α-Gal A enzyme activity, although, demonstration of decreased α-Gal A enzyme activity is diagnostic of the carrier state. The screening for female carriers can be done with the ophthalmic examination based on the presence of cornea verticillata present in 70-90% of females carrier (5,9) .…”

Modern Approach to Fabry Disease Diagnosis and Management in Children

“…Вихревидная кератопатия представляет собой «мутовчатое» помутнение роговицы в виде изогнутых линий коричнево-золотистого цвета, не сопровождается нарушением зрения и является специфическим ранним (выявляется в возрасте 4-5 лет) клиническим проявлением БФ [15,25,26]. С возрастом формируется «катаракта Фабри», представляющая собой помутнение хрусталика в виде задней субкапсулярной радиальной катаракты, и двусторонняя передняя субкапсулярная и капсулярная катаракта [27]. Шум (звон) в ушах, головокружение, снижение слуха (нейросенсорная тугоухость) в детском и подростковом возрасте, вплоть до глухоты у взрослых, также могут быть клиническими проявлениями данного заболевания [2,15].…”