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 form a syndrome caused by mutation of the FOXL2 gene, called BPES. It can occur with (type I) or without premature ovarian failure (type II).
Pre-mature ovarian failure may be associated with the syndrome, leading to early menopause.
- 1. eyewiki.aao.org. Blepharophimosis syndrome. Read relevant article. Accessed on 01/08/2016