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Visual system involvement in CADASIL.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
is
a
hereditary
arteriolar
small
-vessel
disease
caused
by
Notch
3
mutations
.
A
detailed
definition
of
the
neuro-ophthalmologic
spectrum
of
CADASIL
might
provide
new
insights
in
the
pathophysiology
of
small
-vessel
diseases
.
Therefore
,
this
study
aims
to
precisely
delineate
the
features
and
the
prevalence
of
the
visual
system
impairment
in
CADASIL
.
A
cohort
of
34
genetically
confirmed
CADASIL
patients
was
enrolled
in
an
observational
cross-sectional
study
.
Subjects
underwent
a
complete
neuro-ophthalmological
evaluation
.
Clinical
features
and
common
cardiovascular
risk
factors
were
also
considered
.
Data
were
compared
with
those
already
reported
in
previous
studies
.
Both
afferent
and
efferent
visual
structures
were
commonly
impaired
in
CADASIL
patients
.
Retinal
microvascular
changes
such
as
arteriolar
narrowing
and
arteriovenous
nicking
,
described
in
most
patients
and
detected
also
in
asymptomatic
carriers
,
reflect
the
typical
hemodynamic
changes
of
CADASIL
.
However
,
less
frequent
findings
,
like
early
macular
and
lens
changes
,
would
indicate
a
possible
further
role
played
by
susceptibility
to
premature
aging
and
degeneration
.
Cotton
wool
spots
and
vessel
occlusions
were
not
common
.
Finally
,
eye
movement
abnormalities
suggest
that
the
brainstem
is
particularly
vulnerable
to
damage
in
CADASIL
.
Although
no
specific
or
prominent
neuro-ophthalmologic
finding
can
be
considered
as
hallmark
of
the
disease
,
afferent
and
efferent
visual
system
abnormalities
could
be
accounted
as
complementary
markers
to
study
cerebral
small
-vessel
diseases
.
Diseases
Validation
Diseases presenting
"premature aging"
symptom
alexander disease
cadasil
cushing syndrome
kindler syndrome
werner syndrome
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