Paula and Bobby
Parents of Lillie
Understanding eye related symptoms and features
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 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.
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. In this case, a fast, targeted genetic analysis by a certified genetic counselor can give you a more accurate diagnosis.
Clouding of the lens of the eye, Cloudy lens, Lens opacities, Cataracts, Lens opacity
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