Citation, DOI & article data
Blepharophimosis is dysplasia of the eyelids, where there is horizontal shortening of palpebral fissure. It is often associated with ptosis.
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is caused by a mutation of the FOXL2 gene. It can occur with (type I), or without premature ovarian failure (type II).
- 1. eyewiki.aao.org. Blepharophimosis syndrome. Read relevant article. Accessed on 01/08/2016