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Blepharophimosis Definition

Blepharophimosis is a condition where the individual has bilateral ptosis with reduced lid size. The the patient's nasal bridge is flat and there is hypoplastic orbital rim. Both the vertical and horizontal palpebral fissures (or eyelid opening) are reduced in length. Vignes probably first described this entity as a dysplasia of the eyelids. Aside from small palpebral fissures, features include epicanthus inversus (folds curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, and ptosis of the eyelids. Blepharophimosis, ptosis, and epicanthus inversus syndrome, either accompanied with premature ovarian failure (BPES type I) or without (BPES type II), is caused by mutations in the FOXL2 gene.

Blepharophimosis Prevalence

Ophanet, who are a consortium of European partners, currently defines a condition rare when if affetcs only 1 person per 2,000. They have categorized Blepharophimosis as a "rare disease".

Blepharophimosis Symptoms and Signs

Patients born with blepharophimosis display signs of the condition such as small eyelids that are short in dimension which can causing ectropion, where the lower eyelid is too short to adequately cover the eye. The eyelids tend to be shorter from side to side and may display ptosis, or the sagging of the eyelids. Patients may also have a dissicult time as they only have a small opening for the eyes to see through. Their eyes are also spread apart from eachother (known as telecanthus) that can make the nose look extremely flattened. Other symptoms of the condition are the arching of the eyebrows, the presence of epicanthal folds (a fold of extra tissue near the central corner of the eye opening, and the bones above the eyes (the supraorbital ridge) is slightly flattened. The patient may also possess a lateral displacement of inner canthi, hypoplasia and fibrosis of the levator palpebrae muscle, strabismus, amblyopia, increased vertical height of eyebros, incomplete ear development and cupped ears, primary hypogonadism, and reduced muscle tone early on in life. Females with this condition may suffer from menstrual irregularity and infertility. The condition is usually inherited and its different elements show up to various degrees. Besides the unusual appearance, individuals with blepharophimosis cannot easily see beyond their eyelids.

Blepharophimosis Treatment

Treatment for the condition includes treating underlying medical condition when possible. Eyelid crutches may be attached to glasses and may be used as temporizing measures, but this may limit blinking and result in dry eyes. To aid in the patient's vision, eyelid surgery may be necessary. In children below the age 10, if amblyopia is induced, surgical correction should be performed as soon as possible.

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