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Werner syndrome with refractory cystoid macular edema and immunohistochemical analysis of WRN proteins in human retinas.
[werner syndrome]
To
present
our
findings
in
a
case
of
Werner
syndrome
with
refractory
cystoid
macular
edema
(
CME
)
and
to
determine
the
expression
and
the
distribution
of
WRN
proteins
in
human
retinas
.
A
35
-
year
-old
man
with
Werner
syndrome
who
developed
CME
after
YAG
laser
treatment
was
studied
.
Optical
coherence
tomographic
(
OCT
)
scans
were
used
to
examine
the
CME
in
the
right
eye
.
The
patient
received
topical
eye
drops
(
0
.
1
%
bromfenac
sodium
hydrate
twice
daily
and
1
%
dorzolamide
hydrochloride
thrice
daily
)
,
sub-
Tenon
triamcinolone
injection
thrice
,
intravitreal
bevacizumab
injection
twice
,
and
pars
plana
vitrectomy
of
the
right
eye
.
Genetic
analyses
were
performed
to
diagnose
the
disease
.
To
examine
the
expression
and
distribution
of
WRN
proteins
in
the
retinas
,
immunohistochemistry
for
WRN
proteins
was
performed
in
human
retinas
.
The
CME
in
the
right
eye
was
not
improved
by
any
of
the
treatments
.
During
the
follow-up
period
,
CME
developed
in
the
left
eye
.
Genetic
analyses
detected
compound
heterozygosity
,
Mut
4
and
Mut
11
,
in
the
WRN
gene
and
the
individual
was
diagnosed
with
Werner
syndrome
.
Immunohistochemical
analysis
of
WRN
proteins
expression
in
human
retinas
showed
that
WRN
proteins
were
expressed
in
the
parts
of
the
Müller
cells
in
the
inner
nuclear
layer
and
outer
nuclear
layer
.
Patients
with
Werner
syndrome
can
develop
severe
CME
after
laser
treatment
.
A
pathological
link
may
exist
between
mutations
in
the
WRN
gene
and
the
development
of
CME
in
patients
with
Werner
syndrome
.
Diseases
Validation
Diseases presenting
"mutations in the wrn gene"
symptom
werner syndrome
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