Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal palpebral fissures (eyelid openings) are shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus.
|18-year-old female with blepharophimosis as a result of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)|
Blepharophimosis forms a part of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), also called blepharophimosis syndrome, which is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is a hypoplastic orbital rim. There are two known types of blepharophimosis, type 1 and type 2. Although research is limited, it is known that type 1 and 2 are expressed with the same symptoms mentioned above, but type 1 also has the characteristic of premature ovarian insufficiency (POI) in women, which causes menopausal symptoms in patients as young as 15 years old. This is due to the shortening of the FOXL2 gene.
Vignes (1889) probably first described this entity, a dysplasia of the eyelids.
In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, ptosis of the eyelids and telecanthus.
Blepharophimosis syndrome is an autosomal dominant characterized by blepharophimosis (horizontal shortening of the palpebral fissures), ptosis (upper eyelid drooping, usually with the characteristics of congenital ptosis), epicanthus inversus (skin folds by the nasal bridge, more prominent lower than upper lid), and telecanthus (widening of the distance between the medial orbital walls). This syndrome is caused by mutations in the FOXL2 gene, either with premature ovarian failure (BPES type I) or without (BPES type II). It may also be associated with lop ears, ectropion, hypoplasia of superior orbital rims, and hypertelorism.
- Photo of blepharophimosis patient
- Grzechocińska, Barbara; Warzecha, Damian; Wypchło, Maria; Ploski, Rafal; Wielgoś, Mirosław (2019-07-31). "Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report". BMC Medical Genetics. 20 (1): 132. doi:10.1186/s12881-019-0865-0. ISSN 1471-2350. PMC 6670140. PMID 31366388.
- OMIM article on Blepharophimosis