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[Clinical Findings in Family with Aniridia due the PAX6 Mutation].
[aniridia]
inborn
isolated
aniridia
is
rare
bilateral
impairment
of
several
eye
structures
manifesting
mainly
by
absence
of
iris
,
photophobia
and
decreased
visual
acuity
.
There
are
also
others
ocular
symptoms
associated
with
aniridia
such
as
nystagmus
,
strabismus
,
eyelid
ptosis
,
amblyopia
,
serious
refractive
errors
,
anisometropia
,
corneal
changes
,
impairment
of
the
lens
,
chamber
angle
dysgenesis
,
optic
nerve
and
macular
hypoplasia
and
congenital
or
secondary
glaucoma
.
The
most
frequent
aetiology
of
this
eye
dysgenesis
is
mutation
in
PAX
6
.
Aim
of
this
report
is
to
describe
ocular
findings
in
the
family
with
familial
aniridia
(
MIM
#
106210
)
,
to
debate
their
severity
,
prognosis
and
therapy
options
.
assessment
of
previous
medical
history
and
actual
ophthalmological
findings
in
4
persons
of
3
generation
family
with
aniridia
.
According
to
the
compliance
,
the
patients
underwent
these
tests
:
assessment
of
the
visual
acuity
,
intraocular
pressure
,
refraction
test
,
slit-lamp
examination
and
biomicroscopy
,
pachymetry
test
and
OCT
examination
.
The
genetic
counselling
was
performed
with
subsequent
PAX
6
mutation
analysis
.
all
of
the
examined
aniridia
family
members
showed
severe
symptoms
of
the
disease
,
the
aniridia
and
photophobia
were
present
.
Positive
age
related
correlation
showed
progressive
visual
acuity
decrease
to
the
practical
blindness
due
to
aniridia
-associated
keratopathy
,
secondary
glaucoma
and
cataract
.
DNA
analysis
revealed
presence
of
p
.
G
ln
180
X
PAX
6
mutation
in
all
of
the
affected
persons
.
The
mutation
leads
to
shortened
and
therefore
non-
functional
protein
.
PAX
6
mutations
leading
to
premature
termination
of
protein
translation
are
frequently
associated
with
severe
symptoms
of
aniridia
and
small
intrafamilial
variability
of
ocular
impairment
.
This
fact
is
also
well
demonstrated
in
members
of
family
described
by
this
report
,
the
symptoms
are
severe
and
progressing
with
age
.
Therapy
is
difficult
and
often
with
partial
success
,
such
in
case
of
secondary
glaucoma
in
young
girl
from
this
family
.
Any
eye
surgery
must
be
individually
judged
due
to
risk
of
several
post-operative
complications
.
And
more
,
the
poor
vision
in
aniridia
patients
is
progressively
worsening
in
time
to
practical
blindness
.
Key
words
:
aniridia
,
PAX
6
,
macular
hypoplasia
,
glaucoma
.
Diseases
Validation
Diseases presenting
"anisometropia"
symptom
aniridia
cohen syndrome
This symptom has already been validated