Blepharophimosis

Blepharophimosis is a familial genetic disorder, with typical clinical symptoms appearing at birth or during early development. This is a rare congenital disease with a global incidence of approximately 1/50,000 and an incidence of 1/10,000 in China. It is mostly familial, with occasional sporadic cases, and is more common in males than females. The disease can be divided into two types based on clinical manifestations and associated symptoms: Type I presents with four typical ocular manifestations: narrow palpebral fissures, ptosis obstructing vision, epicanthus inversus, and increased intercanthal distance, accompanied by premature ovarian failure in female patients. It can be inherited through affected males. Type II presents with the four ocular manifestations but without premature ovarian failure in females, and the probability of inheritance is equal for males and females.