What are the main symptoms of Aniridia?
Some of the main symptoms of aniridia include a sensitivity to light, abnormal and/or misshapen pupils, and possibly a reduction in the sharpness of one's vision.
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Are there earlier onset, later onset, or variant forms of Aniridia?
Aniridia is something an individual is born with, but the different medical problems or features associated with the eye can occur at birth, or later in life over time.
What health problems should I look for in Aniridia?
Since aniridia is a condition where the iris of the eye is absent, most of the health problems associated with aniridia will be ocular features, that is, features associated with the eyes. These ocular features are cataracts (clouding of the eye's lense), glaucoma (increased pressure in the eye), involuntary eye movements (nystagmus), or underdevelopment of the area behind the eye responsible for sharp central vision (foveal hypoplasia). These symptoms may progressively lead to vision loss without proper ophthalmologic management.
Any other diseases that look a lot like Aniridia?
Other ocular conditions resemble aniridia. Some of these conditions include Rieger anomaly, Iris coloboma, and Gillespie syndrome--each distinct but similar conditions that also affect the iris.
Are there one or two characteristic "odd" or "unusual" symptoms or clinical features of Aniridia?
Other clinical features are uncommon if the aniridia is isolated-that is, unassociated with another genetic syndrome. However, in rare cases individuals with aniridia may exhibit symptoms as diverse as developmental delay, behavioral issues and even problems detecting odors.
Can Aniridia be associated with other health problems not associated with the eyes?
There are some genetic syndromes with which aniridia is associated. Both Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome and Gillespie syndrome include aniridia, but each are associated with further symptoms uncharacteristic of aniridia alone.
Is there variable expression or incomplete penetrance in Aniridia?
The penetrance of aniridia is 100%: all those with the PAX6 gene mutation will show the clinical features of aniridia.
If Aniridia is a 100% penetrant, then why do different people in my family have different symptoms?
Although a 100% penetrant, aniridia has variable expressivity, meaning its severity differs across those afflicted. Some will experience only mild symptoms, others moderate ones, and still others more severe symptoms.
Does a mutation or a change in the PAX6 gene mean I have a predisposition to Aniridia?
The risk of having aniridia with a change in the PAX6 gene is 100%.
Why are my eyes sensitive to lights if I have Aniridia?
Individuals with aniridia often have dilated pupils because the iris normally adjusts how much light reaches the pupil. Without this protection, the eye is especially sensitive to light.