Blepharophimosis

What is Blepharophimosis?

It is a congenital condition which affects the development of the eyelids. The eyelids do not develop as they should, they do not open as far as they should and consequently cover part of the eye. This leads to a much smaller eye opening. This can also make the eyes appear more widely spaced apart.

Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome.

The eye is a part of the ocular and vision systems of the body. The ocular system includes the eye and its central vision system (cornea, lens, eye fluids), all of the parts which make vision possible.

Symptoms affecting the eyes may be congenital, present at birth, or they may develop later in life. Sometimes surgery may be an option to correct them.

Symptoms relating to the eyes may affect their structure and function including their ability to see, other times they may simply affect the shape or appearance of the eye without any impact on vision.

What should I do next?

In some instances, a narrow opening between the eyelids may be one of the features of a rare disease or genetic syndrome. To find out if someone with Blepharophimosis, may be due to a genetic syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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Synonyms:
Clouding of the lens of the eye, Cloudy lens, Lens opacities, Cataracts, Lens opacity
Related syndromes:

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