Aniridia

By Susie Goodell
 History

● In 1818, Dr. Barratta became the first to describe

the disease
● Caused by:
○ deletion of 11p13 involving the PAX6 (aniridia) locus
and the adjacent WT1 (Wilms tumor) locus
■ part of the Wilms tumor-aniridia-genital
anomalies-retardation (WAGR) syndrome
○ isolated ocular abnormality without systemic
involvement
■ Both cause the eye to stop developing too early,
leading to the absence of an iris
 Symptoms

● Absence of the iris in both eyes (although they can be affected

differently)
○ Partial or complete
○ Small ring of iris tissue still present so the pupil is very large and
usually irregularly-shaped
● Abnormalities in the cornea, optic nerve, retina, and lens
● Vision problems from less sharp vision and increased
sensitivity to light
○ Unknown what causes this low vision
● Can lead to other eye problems as well (ie. glaucoma)
● Nystagmus
○ difficult to maintain eye contact and may lead others to
think that patients with aniridia are not paying attention
 Causes
● Sometimes already present at birth; other times it appears gradually
● Two-thirds of cases are caused by mutation in the short arm of
chromosome 11 (11p13) which affects the PAX6 gene during the 12th
to 14th week of pregnancy
○ PAX6 gene gives instructions for protein that is involved in the early
development of the central nervous system (ie. eyes, brain and spinal
cord)and the pancreas and regulates several genes that likely help
maintain different eye structures.
● Usually inherited as an autosomal dominant trait, but the disease is
extremely rare
● In most cases, an affected person inherits the mutation from one
affected parent
○ The other cases result from new mutations in the gene and occur
in people with no history of the disorder in their family
 Treatment Options

● Nothing to cure the disease, but ways to prevent worsening of effects

or other related problems
● Regular eye exams to assess vision and test for glasses, glaucoma,
and cataract
○ Glaucoma will need eye drops and sometimes surgery
○ Cataract will need removal of the lens with or without an intraocular lens
implant
● Artificial tears and ointments as well as limbal stem cell transplants
help with related corneal problems
● Frequent ultrasound tests of kidneys for early detection of Wilms’
tumor
 Treatment Options (Continued)

● Families have to adjust because problems similar to those

with visual impairment
○ Hard to play sports, travel, work, etc
● Difficult to adapt to frequently changing light conditions
● Sensitive to intense light and reflections
○ Have to adapt home, school, and workplace
environments
● Rapid change in light (ie. turning a light switch on) causes
pain, dry sneezing, dizziness, and visual discomfort
● Wear spectacles, contact lenses with an artificial iris and
fixed pupil that blocks out the light, or sunglasses with
highly protective lenses, even on cloudy days or inside
Identification

● Present at birth or gradually occurs

● Genetic Investigation
○ To identify the mutation and see if it is isolated
● Typically an autosomal dominant trait
○ If one parent has aniridia, there is a 50% chance they will pass
the gene on to their child
● The rare inheritance pattern of aniridia is autosomal recessive (when
both parents carry the gene, but do not have the disease)
○ A couple like this has a 25% chance of having a child with
aniridia
 Bioethical Considerations

● Artificial implants into the eye

○ Needed for cataracts that may occur
because of the disease
● Raise awareness for the disease
○ Affects young children, especially in school
■ If teachers don’t understand the
disease and its effects, they may
assume the child is absent-minded or
uninterested
Calculations

1/60,000 - 1/100,000 newborns have the condition annually

I used 80,000

1/80,000 = 0.0000125

Frequency is 0.0000125

Autosomal dominant so p = 0.0000125 and q = 0.9999875

Generation 1

https://docs.google.com/spreadsheets/d/1EH14alwChWDwwQmkoQgpxqJu6GIr6
kJr8sx0LbGp7ac/edit
Generation 2
Generation 3
Generation 4
Generation 5
Generation 6
Generation 7
Generation 8
Generation 9
Generation 10
Bibliography

http://eyewiki.aao.org/Aniridia

https://www.aniridia.eu/what-is-aniridia/

http://www.medindia.net/patientinfo/aniridia.htm

https://ghr.nlm.nih.gov/condition/aniridia

https://aapos.org/terms/conditions/26

https://www.biology.iupui.edu/biocourses/Biol540H/AniridiaSQ.html

https://www.ncbi.nlm.nih.gov/books/NBK1360/