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 Coloboma?
Coloboma is an eye condition that occurs when eye tissue is missing. This might also be defined as a hole or notch in one of the different parts of the eye, the iris or retina, for example. It is a congenital condition that is present at birth. It can occur in one or both eyes.
Vision impairment may occur depending on the size, and location of the missing tissue.
What should I do next?
In some instances, coloboma 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.
Notched pupil, Ocular coloboma, Ocular colobomas
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