Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Three cases with unusual ophthalmic phenotypes of congenital aniridia.
[aniridia]
To
report
3
cases
with
unusual
ophthalmic
phenotypes
of
congenital
aniridia
.
Interventional
case
series
.
A
10
-
day
-old
infant
with
cloudy
and
large
cornea
in
both
eyes
,
1
month
-old
male
with
bilateral
corneal
opacity
,
and
27
-
year
-old
male
with
low
vision
.
Complete
ophthalmic
examination
and
genetic
evaluation
.
Case
1
was
a
neonate
with
concurrent
presentation
of
congenital
aniridia
and
glaucoma
.
Case
2
was
diagnosed
as
congenital
aniridia
combined
with
Peters
anomaly
in
both
eyes
.
Case
3
had
2
unusual
features
of
aniridia
,
which
were
asymmetric
iris
involvement
and
absence
of
limbal
deficiency
.
It
is
important
to
perform
thorough
ophthalmologic
evaluations
in
patients
with
congenital
aniridia
because
of
the
possibilities
of
coexistence
of
other
ocular
abnormalities
.
Diseases
Validation
Diseases presenting
"glaucoma"
symptom
22q11.2 deletion syndrome
aniridia
coats disease
cohen syndrome
krabbe disease
oculocutaneous albinism
oligodontia
proteus syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
This symptom has already been validated