Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES)

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BPES stands for Blepharophimosis Ptosis Epicanthus Inversus Syndrome. It is a genetic disorder affecting most notably the eyelids. It affects one in 50,000 people, both male and female.

The physical signs of BPES include abnormally narrow eyelids horizontally. The upper eyelids droop. A vertical fold of skin might form from the lower eyelid up either side of the nose. Sufferers may have a low or flat nasal bridge. To compensate for the drooping eyelids affected people might tilt their head back and furrow their brow in order to see better.

Despite these common symptoms sufferers may look considerably different from each other. In some people the symptoms are so mild they are almost unrecognisable. Some caucasian children might be misdiagnosed with Down’s Syndrome initially.

People with BPES might be particularly sensitive to bright light, even in winter. Some experience a feeling of dryness.

Other possible symptoms include fertility problems in women.

BPES is split into Type 1 and Type 2. Type 1 is more common and is likely to mean a risk of infertility in women, it is thought to be passed through generations by men in the family. Type 2 is transmitted by both affected men and women.

Contact other families affected by BPES

Treatment

Eye surgery may be an option to correct visual difficulties. This is usually started between the ages of three and five years.

Genetic Inheritence

BPES is an ‘autosomal dominant’ condition which means it can be inherited from a single parent. It is thought the affected genes are the FOXL and KAT6B genes.

Contact other families affected by BPES

We will try to put you in touch with other families affected by BPES. Fill in the form below and a member of our support team will get back to you within 7 working days.

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