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