Aniridia is a rare genetic eye disorder characterized by the complete or partial absence of theiris.
The Greek term for “without iris,” aniridia is a congenital condition that affects both eyes.
Other names for the disorder include absent iris, congenital aniridia, and irideremia.
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The most visible part of the eye, the iris also determines the color of your eyes.
People with blue or light eyes have less pigmented irises than people with brown or darker colored eyes.
The effects of aniridia can vary significantly between people.
In some people with aniridia, the iris may be only mildly affected.
In others, however, the effects can be profound.
Aniridia can reduce visual acuity and increase sensitivity to light.
In some people, the iris may only be partially missing.
Others may have complete absence of the iris.
Besides affecting the iris, aniridia can also cause the following symptoms.
The severity of symptoms is typically the same in both eyes.
These mutations disrupt the formation of the eyes.
Aniridia occurs in1 in 50,000 to 100,000 newbornsworldwide.
Aniridia can also be acquired from ocular surgery and trauma.
Diagnosis
Aniridia is usually detected at birth.
The most noticeable feature is that a baby’s eyes are very dark with no real iris color.
Diagnosing a genetic or rare disease can be challenging.
Healthcare professionals will inquire about a persons medical history and symptoms.
A thorough physical exam will be performed, as well as a complete eye examination.
Genetic and laboratory testing will be required for make a formal diagnosis.
Treatment
Aniridia affects the eyes in many ways, and affects people at different severity levels.
Treatment for the disorder can take many forms.
Coping
The diagnosis of aniridia may come as a complete shock.
Support is available to help families adapt to difficulties they may face with developmental delays or low vision needs.
A Word From Verywell
Early intervention is very important if your baby is diagnosed with aniridia.
Treatment will focus on preserving vision and improving your baby’s vision through visual aids and/or surgery.
Therapists will work with your baby to help the child develop as normally as possible.
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