Rare Diseases Symptoms Automatic Extraction
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Fabry disease: a survey of visual and ocular symptoms.
[fabry disease]
To
evaluate
a
visual
symptoms
survey
on
patients
with
a
known
diagnosis
of
Fabry
disease
,
and
to
compare
the
scores
to
those
from
a
group
of
healthy
subjects
.
An
ocular
symptom
survey
instrument
was
used
to
evaluate
the
symptoms
of
general
ocular
problems
like
itching
,
tearing
,
dryness
,
burning
sensation
,
sensation
of
foreign
body
,
difficulty
in
scotopic
and
photopic
vision
,
and
asthenopic
symptoms
.
The
survey
instrument
was
administered
to
95
participants
(
75
patients
with
Fabry
disease
and
20
healthy
controls
;
median
age
:
32
.
5
years
[
standard
deviation
:
19
.
1
years
]
and
42
.
6
years
[
standard
deviation
:
14
.
7
years
]
,
respectively
)
.
A
Mann-
Whitney
test
was
performed
to
evaluate
the
difference
between
the
Fabry
group
and
the
healthy
controls
for
each
symptom
survey
severity
score
.
A
P-
value
<
0
.
05
was
considered
significant
.
Of
the
survey
instrument
items
,
it
was
found
that
compared
to
the
control
group
,
the
mean
severity
score
of
the
Fabry
disease
group
was
significant
for
"
dryness
"
of
the
eyes
(
P
=
0
.
02
)
,
"
blurry
/
dim
vision
"
(
P
=
0
.
02
)
,
"
hard
to
see
in
dark
places
"
(
P
=
0
.
01
)
,
and
"
halos
around
light
"
(
P
=
0
.
01
)
.
The
Fabry
group
also
had
a
mean
severity
score
for
"
soreness
/
tiredness
"
that
was
significantly
higher
than
that
of
the
control
group
(
P
=
0
.
009
)
.
The
patients
with
Fabry
disease
may
be
suffering
from
ocular
and
visual
symptoms
related
to
manifestations
of
the
disease
.
Further
quantitative
testing
is
needed
to
investigate
the
ocular
and
visual
symptoms
.
Diseases
Validation
Diseases presenting
"further quantitative testing"
symptom
fabry disease
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