Resumen de Cornea verticillata in Fabry disease: a useful diagnostic tool available exclusively to the ophthalmologist
Sara Miraflores Gómez, Azucena Baeza Autillo, Alejandra Tapia Bahamondes, Juan Carlos Ruiz Morandé, P. Balado, B. García Valcarcel González
ABSTRACT: Cornea verticillata is a very consistent early finding in Fabry disease. It is highly prevalent both in male sufferers and in female carriers and can be used as a highly sensitive and specific tool for the diagnosis of this disease. It is also helpful for early diagnosis in family studies.
No significant relationship has been established between the presence of cornea verticillata and the degree of systemic involvement in Fabry disease. As such, it does not add to the diagnosis any information regarding systemic severity or the possible progress of the disease.
We present the case of a female carrier of the Fabry disease mutation who, while initially presenting cardiovascular symptoms, was found to have cornea verticillata as the main ophthalmological finding. We review the characteristics of this corneal change which is of great diagnostic value in a disease that can have an inauspicious prognosis if treatment is not initiated early on
