Partial iris in a Dutch belted rabbit
Esther van Praag, Ph.D.
funded solely by the generosity of donors.
donation, no matter what the size, is appreciated and will aid in the
continuing research of medical care and health of rabbits.
Aniridia is a complex
congenital defect that is characterized by the incomplete development of the
colored part of the eye (iris). It is often accompanied by ophthalmologic
complications. The degree of the defect varies from one individual to another,
ranging from a partial iris to a total absence of the iris. The term
"total absence" is, in fact, inappropriate because a rudimentary
and non-functional residue of iris tissue is present even in the complete
absence of the iris. It forms a very thin and barely visible collar around
the pupil. Aniridia usually affects both eyes. The
degree of damage may vary between one eye and the other.
of the iris is very rare. It has been observed in rodents, sheep, cows,
horses, and humans. No case of aniridia seems to
have been described in the rabbit so far. In any case, the frequency of aniridia is unknown in rabbits, but it is very rare (thanks
to Michel Gruaz for informing me about this young
rabbit). In humans, this malformation is observed in one in 50,000 to 100,000
Dutch young rabbit with a rare eye
anomaly : incomplete aniridia
Effects on vision and frequency
The complete or partial absence of the iris no longer
makes it possible to filter light efficaciously. Indeed, the iris contains
muscles that regulate the size of the pupil to limit the passage of light
waves into the eye. If the iris is absent, even partially, the size of the
pupil no longer varies according to the light brightness and remains dilated.
In some cases, the pupil is so dilated that it is possible to distinguish the
large circumference of the lens and the ciliary body that fixes the lens
thanks to zonular fibers. As a consequence, an individual suffering from aniridia fears light and suffers from photophobia. When light
is intense, the animal tries to look sideways or reacts strongly when there
is a flash of light, e.g., from a camera, when taking a picture. The
discomfort caused by the light can induce an involuntary movement of the
eyes. Visual acuity can be affected. It varies from excellent to very bad
depending on the degree of absence of the iris and the anomaly of other
structures of the eye.
Congenital defect that is often inherited
Aniridia is generally a genetic malformation in vertebrates
and in man, but it can also occur spontaneously or be caused by a penetrating
wound. Family or lineage heredity is observed. The penetrance of this ocular
disorder is variable. The transmission is usually of the autosomal dominant
type. This means that when one parent is affected, descendants have 50%
chance of having an aniridia. More rarely,
transmission is autosomal recessive. In these individuals, aniridia is often accompanied by disturbances of balance
and uncoordinated movements (ataxia). In about 1/3 of the cases, the parents
do not carry the gene for aniridia. It is the
result of a spontaneous mutation caused by the loss or insertion of one or
more nucleotides in the gene responsible for the development of the eye,
which causes this abnormality in a descendant.
Incomplete iris on its top part and
very dilated pupil that does not respond to differences in brightness
Genetics of aniridia
In man and mammals, aniridia is
linked to the PAX6 gene. This gene is activated at the beginning of
embryogenesis and plays a major role in the morphogenesis of the eye. This
gene plays the role of a "conductor". Its expression will cause a
cascade of events on the 2000 to 3000 members of the orchestra,
that is on the 2000 to 3000 genes involved in the formation of the
different ocular structures, which lead to the formation of the eye. To
achieve this, the PAX6 gene encodes for a protein of the same name. The
latter will attach to the 2000 to 3000 genes located on different chromosomes
and regulate their activities, either activating their expression or stopping
it. Since there may be several copies of the same gene, the binding of the
PAX6 protein with either of these copies promotes the expression of a large
genetic diversity in the offspring.
The PAX6 protein thus controls the early initiation and
formation of the many structures of the eye during the development of the
embryo. A mutation in this gene will therefore have a major impact with many
structural malformations. The most common are aniridia
or a very thin cornea.
Eye complications due to aniridia
Aniridia is rarely the sole
structural abnormality of the eye, although it is the most obvious. On the
contrary, it is usually accompanied by other defects of the eye structure and
the appearance of secondary visual complications with serious consequences in
the young rabbit. This has been observed in both mice and humans.
The structural abnormalities of the eye that are
associated with aniridia are numerous. A visible
complication of aniridia, mentioned above, includes
the dilatation and/or deformation of the pupil due to the absence of muscles
in the partial or absent iris. Other complications include a thickening or
vascularization of the cornea or the translucent anterior portion of the
eyeball becoming opaque. Another complication is related to a reduction in
the number of limbic stem cells in the periphery of the cornea and the
conjunctiva, whose role is to renew the cornea. Their reduced number allows
the connective membrane lining the inside of the eyelids to cover the cornea.
The inability to repair this part of the eye after an injury results in
scarring or vascularization with a more or less significant loss of vision. Aniridia may also be accompanied by early displacement or
opacification of the lens and the onset of juvenile cataract. When the
development of the structures of the corner of the eye is rudimentary,
draining of tear fluid no longer occurs. The increase in pressure in the eye
contributes to the development of juvenile glaucoma.
Aniridia may be accompanied by complications that are not
related to the eye, but to the central nervous system, such as a difficulty
in detecting odors.
Christine Goodhand -
Young dwarf rabbit with cataract
caused by Encephalitozoon cuniculi, unrelated to aniridia
(left), and young Japanese rabbit with juvenile glaucoma unrelated to aniridia (right)
Many thanks to Michel Gruaz
(Switzerland) and Christine Goodhand (USA) for
their photos and permission to use them for MediRabbit.