The Royal College of Ophthalmologists

Aniridia
Aniridia is a rare genetic eye condition caused by a spelling mistake in the genetic code
(mutation) or loss of a copy of a gene called PAX6. It has an estimated incidence of
between 1 in 64,000 to 1 in 96,000 live births. It is not more common in any particular
racial group. About two thirds of cases have a family history, which means that the
condition is present in one or other parent. The condition is present at birth (i.e. is
congenital) and is almost always bilateral.

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Figure 1: An eye with aniridia

Aniridia is characterised by the partial or complete absence of the iris (the coloured part
of the eye) and also an under-development of the central part of the retina (which is
important for detailed vision) called the fovea. This is known as foveal hypoplasia and
leads to a significant (but variable) reduction in visual acuity. Aniridia can also lead to a
range of associated conditions including nystagmus (unsteady/jerky eye movements),
glaucoma (raised pressure within the eye) and cataract (opacity in the lens of the eye).
The glaucoma associated with aniridia can (rarely) be present at birth but usually
develops later in life typically from the second decade onwards. This is one of the

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Thanks to Manchester Royal Eye Hospital for providing the images used in this publication

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reasons why it is important for individuals with aniridia to be followed up by an eye
specialist. The lifelong risk of glaucoma is about 30 to 50%. Similarly significant
cataracts may occasionally be present at birth but the risk for cataract development
increases with age with some lens opacity seen in the majority of patients by the age of
20. Corneal pannus (scar tissue and blood vessels on the surface of the eye) may
develop in later life due to problems with the cells regenerating the surface of the eye
(this is called limbal stem cell deficiency).

The lack of iris tissue can cause individuals with aniridia to be photophobic (more
sensitive to bright light). Simple measures including the use of a hat or cap outdoors
and/or tinted or dark glasses are helpful in minimising this symptom.

Why does it occur and what other health problems are associated?

Aniridia usually arises as an isolated ocular malformation (i.e. affecting the eye only -
without any other associated health problems). In this situation, it is usually caused by a
mutation in a gene known as PAX6. This gene is carried on chromosome 11 and is very
important in ensuring normal eye development. Many individuals with this isolated type
of aniridia have other family members, including one of their parents affected by the
condition. They are not usually affected by other non-ocular health problems. However
children with sporadic aniridia (i.e. without a known previous family history) are
potentially at risk of developing a serious kidney problem known as Wilms tumour.
These children have loss of genetic material on chromosome 11 in the area of the PAX6
gene. In about one third of patients with sporadic aniridia the loss of genetic material
includes the PAX6 gene and a neighbouring gene WT1. Loss of the WT1 gene is
associated with a high risk of develooping Wilms tumour. This tumour can be treated.
Some genitourinary and learning problems can also occur in children with large gene
abnormalities. Blood tests can detect those children with aniridia who are at high risk of
developing Wilms tumour and those children can have regular investigations to detect
the tumour at an early stage when treatment is most effective.

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How is it detected and by who?

Aniridia may be picked up by the doctors carrying out the eye and visual screening
checks on infants. These take place on the neonatal ward (usually by a paediatric
doctor) and at 6 to 8 weeks in clinic by a GP. A red reflex assessment is carried out on
both occasions. When it is not detected in this way the diagnosis is usually made when
onset of nystagmus in early infancy leads to referral to a hospital eye department.

What is the red reflex test and what is it used for?

The "red reflex" is equivalent to the "red eye" appearance seen in some photographs.
A "red reflex" test looks at the reflection of (red) light from an ophthalmoscope back from
the retina. Abnormalities such as a cataract in the lens of the eye or iris anomalies are
outlined against this bright red retinal reflex seen with an ophthalmoscope. Any
obstruction to the light being transmitted back blocks the red-reflex and is seen as a
dark shadow.

It is used primarily to check for congenital cataracts. However it is also helpful in looking
for opacities of the cornea (ocular surface) and it is often abnormal when there are other
structural abnormalities of the front or back of the eye or tumours such as
retinoblastoma.

In a newborn baby with aniridia (if there is not also an

associated cataract or cloudy cornea) the red reflex is
not impeded (although it is usually seen as wider or
more obvious than normal).

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Fig 2: A newborn infant with aniridia and glaucoma causing a cloudy cornea

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Thanks to Manchester Royal Eye Hospital for providing the images used in this publication

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Is Aniridia visible to the naked eye?

Aniridia is certainly noticeable in most infants and children as they get older. Once a
baby starts to open its eyes more frequently the enlarged pupil is usually apparent. Most
affected children develop nystagmus (wobbly eye movements) by around 10 to 12
weeks of age and they are also often photophobic (more sensitive to light than other
children).

Is it harder to spot Aniridia in someone with a darker pigmentation?

People with darker skin pigmentation also have darker pigmentation in their retina. The
"red reflex" produced by an ophthalmoscope is therefore also darker and thus produces
less contrast with which to discern the iris structures. This is why it can be more difficult
for a non-specialist to pick up iris abnormalities - particularly in a new-born baby whose
eyes can be difficult to fully open. It becomes easier as the baby gets older and parents
soon become aware of the constantly large pupils.

It should be noted that the darker red-reflex in babies with darker pigmentation can
sometimes be mistaken for a cataract - "false-positive" referrals for cataract from GPs
and Paediatricians can occasionally occur as a result of this.

Follow up
Aniridia is associated with a range of eye problems particularly glaucoma. It is
therefore important that individuals with the condition receive lifelong follow-up in an
ophthalmology clinic.

Paediatric Sub-committee
The Royal College of Ophthalmologists

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Useful links

1. Aniridia Network UK
Aniridia Network UK
22 Cornish House
Adelaide Lane
Sheffield
S3 8BJ

http://www.aniridia.org.uk

Email: info@aniridia.org.uk

Phone: 07792 867 949

2. Royal National Institute for Blind People

http://www.rnib.org.uk/eyehealth/eyeconditions/conditionsac/Pages/aniridia.aspx

3. Action for Blind People (part of the RNIB)

http://www.actionforblindpeople.org.uk/
Contact through the RNIB Helpline: 0303 123 9999

4. VICTA Trust
http://www.victa.org.uk/index.php?option=com_content&view=article&id=49&Itemid=55
Set up by parents of blind and partially sighted children the charity is a national service
for all families with a visually impaired child.

5. LOOK is an organisation that seeks to identify sight related support groups and put
parents in contact. They have regional representatives but they are based at
LOOK

Phone: 0121 428 5038

Email: office@look-uk.org

Post: LOOK National Office

C/o Queen Alexandra College
49 Court Oak Road
Harborne
Birmingham B17 9TG

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