Blepharophimosis


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 are shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus.

Presentation

In addition to small palpebral fissures, features can include epicanthus inversus, low nasal bridge, ptosis of the eyelids and telecanthus.

Associated conditions

Blepharophimosis, ptosis, epicanthus inversus syndrome

Blepharophimosis forms a part of blepharophimosis, ptosis, epicanthus inversus syndrome, also called blepharophimosis syndrome, which is an autosomal dominant condition characterised by blepharophimosis, ptosis, epicanthus inversus and telecanthus. The nasal bridge is flat and there is a hypoplastic orbital rim. It may also be associated with lop ears, ectropion and hypertelorism.
There are two known types, 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 in women, which causes menopausal symptoms in patients as young as 15 years old. This is due to the shortening of the FOXL2 gene.

History

Vignes probably first described this entity, a dysplasia of the eyelids.