ANIRIDIA

GRANDSON KELVIN JERE

LECTURER
DEPT. OF OPHTHALMOLOGY AND
OPTOMETRY
 Background
Aniridia is a congenital, hereditary,
bilateral, extreme form of iris
hypoplasia that may be associated with
other ocular defects.
It's a rare bilateral condition that may
have life-threatening associations
Gonioscopy shows the presence of the
iris root.
Aniridia is not just an isolated defect in
iris development
It is a panocular disorder causing
reduced vision and nystagmus
Ocular structure involvement
- Macular
- Optic nerve hypoplasia,
- Cataract,
- Corneal changes
Aniridia occurs as the following:
• Autosomal disorder : Autosomal
dominant. Rare autosomal recessive
form
• Sporadic case
 GENETICS
The exact defect in iris
morphogenesis giving rise to aniridia
is unknown.
Because the iris pigment epithelium,
the iris musculature, the retina, and the
optic nerve are derived from
neuroectoderm, there may be a
common embryologic origin for these
anomalies.
 GENETICS
It occurs as a result of abnormal
neuroectodermal development secondary
to a mutation in the PAX6 gene linked to
11p13.
An identifiable chromosome deletion of
the short arm of chromosome 11,
including band p13.
PAX6 is adjacent to gene WT1,
mutation of which predisposes to Wilms
tumour.
Frequency
Aniridia is rare and has an
incidence of
1 per 64,000 to 1 per 96,000 live
births. About two thirds of these
cases are familial.
Mortality/Morbidity
All patients with aniridia are
visually impaired for a lifetime.
Further complications like cataract
and glaucoma is common.
Patients with Wilms tumor have a
shorter life span.
Race
No racial predisposition exists.
Age
- Congenital glaucoma and aniridia usually
are not associated at birth.
- The glaucoma develops at either the
preteen or the teenage level.
- Significant cataracts may occur before
puberty.
- The risk for cataract increases with age,
with
lens opacities observed in 50-85% of
patients during the first 2 decades of
life.
 Classification
Aniridia can be divided into the following 3
phenotypes:
AN 1 (AD) – Isolated form accounts for about
two-thirds of cases and has no systemic
implications. Penetrance is complete (i.e. all
patients with the genotype will have the
phenotype) but expressivity (severity) is variable.
AN 2 - Sporadic, including WARG syndrome
(Wilm tumour, Aniridia, Genitourinary
abnormalities, mental Retardation), previously
known as Miller syndrome, accounts for about a
third of patients. Children with sporadic aniridia
have about a 30% chance of developing Wilms
AN 3= Gillespie syndrome accounts for only
about 1% of cases. Inheritance is AR but not
caused by PAX6 mutations. Cerebellar ataxia and
mental handicap are features.
All patients with sporadic aniridia should have
abdominal ultrasonography (to detect Wilms
tumour) every 3 months until 5 years of age,
every 6 months until 10 years of age and annually
until 16 years of age or until molecular genetic
analysis confirms an intragenic mutation without
extragenic involvement.
 DIAGNOSIS
Presentation is typically at birth with nystagmus,
strabismus and photophobia. The parents may
have noticed absence of irides or ‘dilated pupils’
Aniridia is variable in severity, ranging from
minimal, detectable only by retroillumination, to
partial and total
Gonioscopy even in eyes with ‘total’ aniridia
usually shows a hypoplastic or rudimentary frill
of iris tissue

Lids often show meibomian gland dysfunction

Cornea
Tear film instability, dry eye and epithelial defects
are common.
Limbal stem cell deficiency may result in
‘conjunctivalization’ of the peripheral cornea
Total corneal central stromal scarring and
vascularization may occur in end-stage disease
Other lesions include opacity, epibulbar dermoids,
microcornea, sclerocornea and kerato-lenticular
adhesions
Arcus juvenilis
Epithelial ulcers
Lens changes include cataract, subluxation
(usually superiorly, congenital aphakia and
persistent pupillary membranes.

Vitreous - Usually normal

Fundus may exhibit foveal hypoplasia, optic
nerve hypoplasia and choroidal coloboma
Anterior Chamber
Best judged with a slit lamp microscope
Configuration dependent upon the position of
the crystalline lens
Angle closed synechially by iris rudiments
Iris
Complete absence of iris on oblique
illumination
Hypoplasia with irregular pupillary margins
(atypical coloboma of pupil)
Root of the iris visible on gonioscopy

Intraocular pressure
Normal
Increased
Vision - Usually about 6/60 or less
 Differential Diagnoses
Rieger syndrome with iridocorneal dysgenesis
Congenital coloboma of the iris
Hereditary iris hypoplasia
Traumatic iris injury/ Traumatic aniridia
Surgical iris coloboma
Bilateral congenital mydriasis
 Differential Diagnoses
AGR triad syndrome - Aniridia-ambiguous
genitalia (genitourinary abnormalities)-mental
retardation
 Sporadic (bilateral or unilateral)
WAGR syndrome is a rare genetic syndrome in
which affected children are predisposed to
develop Wilms tumour(a tumour of
the kidneys), Genitourinary anomalies,
and mental Retardation
 Medical Care
Prophylaxis is directed toward the prevention of
glaucoma, which includes the following:
Surgical separation of the iris from the trabecular
meshwork in selected cases for anti glaucoma
therapy.
The medical treatment is directed toward control
of intraocular pressure, which includes the
Topical use of the following:
Miotics
Beta-blockers
Sympathomimetics
Carbonic anhydrase inhibitors
Prostaglandin analogues
Optometric Management
Aniridia is treated with
Spectacle correction of refractive errors,
Tinted or photochromic lenses to reduce
light sensitivity,
Occlusion therapy for amblyopia
Low-vision aids (optical and non optical)
Opaque contact lenses may be used to create
an artificial pupil and improve vision and
cosmesis
Lubricants are frequently required for
associated keratopathy
Cataract surgery is often required. Care must
be taken to minimize trauma to the limbus and
preserve stem cell function
Limbal stem cell transplantation with or
without keratoplasty may be required
 Glaucoma in AN
Glaucoma occurs in approximately 75% of
patients and usually presents in late childhood or
adolescence.
It is caused by synechial angle-closure secondary
to the pulling forward of rudimentary iris tissue
by contraction of pre-existing fibres that bridge
the angle.
Treatment is difficult and the prognosis guarded
Medical treatment is usually the initial approach
although it is usually eventually inadequate.
Goniotomy may prevent subsequent rise in IOP
Combined trabeculectomy-trabeculotomy
may be successful although trabeculectomy
alone is seldom beneficial
Artificial filtering shunts may be effective in
established cases
Diode laser cycloablation may be necessary if
other modalities fail
 Genetic Counseling
Genetic counseling:is the process of providing
individuals and families with information on the
nature, inheritance, and implications of genetic
disorders to help them make informed medical
and personal decisions. The following section
deals with genetic risk assessment and the use
of family history and genetic testing to clarify
genetic status for family members.
THANK YOU