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Coats-like retinopathy in an infant with preclinical facioscapulohumeral dystrophy.
[coats disease]
Facioscapulohumeral
dystrophy
(
FSHD
)
is
an
autosomal-dominant
disorder
characterized
by
weakness
of
the
face
,
upper
arm
,
shoulder
,
and
lower
limb
musculature
,
with
an
onset
between
the
first
and
third
decades
.
Coats
disease
is
a
congenital
disorder
of
retinal
vascular
development
characterized
by
unilateral
peripheral
retinal
telangiectasia
and
progressive
subretinal
and
intraretinal
exudation
.
This
condition
has
a
predilection
for
children
and
is
usually
isolated
.
Retinal
vascular
changes
similar
to
those
seen
in
Coats
disease
have
been
demonstrated
by
fluorescein
angiography
in
40
%
to
75
%
of
patients
with
FSHD
.
Most
patients
have
asymptomatic
retinal
telangiectasia
found
at
ocular
screening
in
adulthood
after
diagnosis
of
FSHD
.
We
report
a
7
-
month
-old
infant
with
bilateral
Coats-like
retinopathy
in
which
the
eye
disease
was
discovered
before
findings
of
FSHD
were
clinically
evident
.
To
our
knowledge
,
this
patient
represents
the
youngest
reported
case
of
preclinical
FSHD
with
ocular
disease
.
Diseases
Validation
Diseases presenting
"with an onset between the first and third decades"
symptom
coats disease
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