Research progress of ocular manifestations and pathological mechanisms in Alport syndrome

Abstract

Alport syndrome(AS)is a genetic disease characterized by abnormal basement membrane structure of the kidneys, ears and eyes. The incidence of the disease is 1:5000 approximately. The report on ocular manifestations is relatively scarce, however, it is of great value to diagnosis of the disease. The ocular tissue histopathological analysis provides an effective method to uncover the pathological mechanisms of AS. Besides, it is good for understanding and treatment of AS.

Keywords

• Alport syndrome
• ocular manifestations
• pathological mechanisms
• gene mutation
• basal membrane