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Guidelines for genetic study of aniridia.
[aniridia]
Aniridia
is
a
panocular
disorder
which
occurs
in
1
/
50
,
000
to
1
/
100
,
000
live
births
and
can
appear
either
in
isolated
form
or
in
the
context
of
a
syndrome
.
Isolated
aniridia
is
inherited
as
an
autosomal
dominant
condition
and
is
caused
by
mutations
of
the
PAX
6
gene
.
A
variety
of
techniques
and
methodologies
within
molecular
genetics
and
cytogenetics
are
used
to
study
these
mutations
.
To
identify
the
different
aspects
of
this
disease
and
to
provide
a
guide
for
proper
genetic
diagnosis
leading
to
improved
clinical
management
of
the
disease
.
Aniridia
is
an
autosomal
dominant
disease
that
primarily
affects
the
iris
,
though
it
can
impact
most
of
the
ocular
structures
.
The
disease
is
mainly
caused
by
mutations
in
the
PAX
6
gene
located
on
chromosome
11
p
13
which
encodes
a
transcription
factor
that
is
involved
in
the
development
of
the
eye
.
Genetic
analysis
of
aniridia
is
complex
and
requires
the
use
of
both
molecular
genetics
and
cytogenetics
techniques
.
These
procedures
are
indicated
in
all
cases
of
aniridia
.
It
is
important
bear
certain
clinical
and
technical
aspects
in
mind
prior
to
starting
analysis
or
providing
genetic
counseling
for
patients
and
their
families
.
The
use
of
molecular
genetic
techniques
in
the
genetic
diagnosis
of
aniridia
enables
patients
and
their
families
to
receive
better
clinical
management
.
Diseases
Validation
Diseases presenting
"aniridia"
symptom
aniridia
kabuki syndrome
oculocutaneous albinism
This symptom has already been validated
