Paula and Bobby
Parents of Lillie
Understanding ocular 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 Microphthalmia?
Microphthalmia is a developmental anomaly characterized by abnormal smallness of one or both eyes. During pregnancy, the baby fails to develop correctly causing a severe loss of vision or growth defect surrounding the eye.
Vision may vary depending on the severity of the condition. Microphthalmia may be caused by genetics, but certain other risk factors can also contribute to this symptom.
What should I do next?
In some instances, micropthalmia may be one of the features of a rare disease or genetic syndrome. In this case fast, targeted genetic analysis can give you a more accurate diagnosis.
Lack of facial expression, Mask-like facial appearance, Amimia, Masklike facies
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