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ANIRIDIA

BY: SARA LI LÓPEZ, SANTIAGO BUSTAMANTE


AND ANDRIANA SHUTOVYCH
INDEX 01 Definition

02 Symptoms

03 Causes

04 Prevention

05 Treatment
WHAT IS IT?
Aniridia is the partial or total absence of
the iris.
It can be caused by trauma, complications
in surgery or a genetic defect (the more
common)
It affects both eyes.
Over the years it can produce different
degrees of visual impairment.
SYMPTOMS
It is an eye disease where different parts of the eye are affected and can cause more
eye problems. It is detected in the first days of life, since the abscence of iris causes the
newborn to be more comfortable with the eyes closes when there is light. Another
symptoms can be:

1 LOW VISION
2 GLARE

EXTERNAL APPEARENCE OF
3 PHOTOPHOBIA 4 AN EYE WITH LARGE PUPIL
AND IRREGULAR SHAPE
CAUSES
Aniridia is produced by a genetic mutation,
resulting in an alteration of a gene (PAX-6),
responsible for the formation of the eye during the
pregnancy.

It may be sporadic or hereditary. If it's sporadic, it


means that there's not family history, and at that
moment it becomes hereditary (autosomal
dominant) having a 50% chance of transmiting it.
PREVENTION

It can't be prevented. That is why a


genetic diagnosis is important for
children born with this disease. Annual
follow-ups are carried out to
determinate the degree of the injury
and treat it early in order to maintain
as much vision and for as long is
possible.
TREATMENT
At present, there is no treatment that
makes tis disease disappear, but there is
the possibility of visual stimulation to
develop vision and not lose it over time.
THANK YOU

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