Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A review of the clinical and genetic aspects of aniridia.
[aniridia]
Aniridia
classically
presents
with
a
bilateral
congenital
absence
or
malformation
of
the
irides
,
foveal
hypoplasia
,
and
nystagmus
,
and
patients
tend
to
develop
visually
significant
pre-senile
cataracts
and
keratopathy
.
Additionally
,
they
are
at
high
risk
for
developing
glaucoma
.
Classic
aniridia
can
be
genetically
defined
as
the
presence
of
a
PAX
6
gene
deletion
or
loss
-of-function
mutation
that
results
in
haploinsufficiency
.
Variants
of
aniridia
,
which
include
a
condition
previously
referred
to
as
autosomal
dominant
keratitis
,
are
likely
due
to
PAX
6
mutations
that
lead
to
partial
loss
of
PAX
6
function
.
Aniridia
-associated
keratopathy
(
AAK
)
is
a
progressive
and
potentially
debilitating
problem
affecting
aniridic
patients
.
The
current
treatments
for
AAK
are
to
replace
the
limbal
stem
cells
through
keratolimbal
allograft
(
KLAL
)
with
or
without
subsequent
keratoplasty
for
visual
rehabilitation
,
or
to
implant
a
Boston
type
1
keratoprosthesis
.
Future
therapies
for
AAK
may
be
aimed
at
the
genetic
modification
of
corneal
limbal
stem
cells
.
Diseases
Validation
Diseases presenting
"cataracts"
symptom
aniridia
child syndrome
cohen syndrome
kindler syndrome
werner syndrome
zellweger syndrome
This symptom has already been validated