Visual Impairment

What is Visual Impairment (poor eyesight)?

Visual impairment is the loss of vision to the extent that an affected individual requires support or assistance with activities that require their sight. It may be caused by disease, trauma, or genetic disease. Visual impairment is one that can not be corrected with surgery, medication glasses, and other supportive methods.

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 that 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.

Reduced Visual Acuity: Difficulty seeing clearly at various distances, leading to challenges in reading, recognizing faces, or navigating environments.

Abnormal Eye Movements: The presence of nystagmus (involuntary eye movements) or strabismus (misaligned eyes) can indicate visual impairment, impacting focus and depth perception.

What should I do next?

In some instances, visual impairment may be one of the features of a rare disease or genetic syndrome. To find out if someone with visual impairment, 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.

More signs and symptoms

Signs & Symptoms

Hyperkinetic Movements

Hyperkinetic movements are repetitive, abnormal and involuntary movements of the body. These motions are identified as common neural disturbances in children and can potentially lead to movement disorders. The distribution and severity of these repeated movements may shift over time.

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Rieger Anomaly

Reiger anomaly is an ocular defect characterized by serious deformity in the anterior chamber of the eye with noticeable strands and shrinking of the iris stroma. This congenital malformation of the anterior segment is identified by iridocorneal malformation, glaucoma, iris stromal hypoplasia, posterior embryotoxon, and corneal opacities.

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Restrictive Behavior

Restrictive behavior is a form of behavior characterized by an abnormal limitation to a few interests and activities. Children may engage in repetitive motor movements or speech and may continually employ the same routine.

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