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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
"blindness"
symptom
aniridia
canavan disease
coats disease
cohen syndrome
congenital toxoplasmosis
cystinuria
dracunculiasis
fabry disease
gm1 gangliosidosis
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
neonatal adrenoleukodystrophy
oculocutaneous albinism
x-linked adrenoleukodystrophy
This symptom has already been validated