Familial ptosis

Blepharophimosis, ptosis, and epicanthus inversus syndrome {also called BPES} is a rare genetic disorder that mainly affects the development of the eyelids. People with this condition have a narrowing of the eye opening {blepharophimosis}, droopy eyelids {ptosis}, and an upward fold of the skin of the lower eyelid near the inner corner of the eye {epicanthus inversus}. In addition, there is an increased distance between the inner corners of the eyes {telecanthus}. Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited. There are two types of BPES. Type I consists of the four major features of blepharophimosis, ptosis, epicanthus inversus, and telecanthus, plus premature ovarian failure. So type I is associated with menstrual problems and infertility. Type II consists of only the eyelid malformations. The prevalence of BPES is unknown. Mutations in the FOXL2 gene cause BPES types I and II. Approximately 12 percent of people with BPES do not have an identified FOXL2 gene mutation` the cause of the condition in these people is unknown. This condition is inherited in an autosomal dominant pattern.

E-published: March 2011 Vol 8 Issue 3 Art # 20

References :

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) – Medpedia. Available at website: wiki.medpedia.com/Blepharophimosis/_ptosis,_and_epicanthus_inversus_syndrome_(BPES). Accessed on 11th January 2011 Blepharophimosis, ptosis, epicanthus inversus syndrome. Available at website: children.webmd.com/blepharophimosis-ptosis-epicanthus-inversus-syndrome. Accessed on 11th January 2011