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Ophthalmologic findings in Cohen syndrome. A long-term follow-up.
[cohen syndrome]
To
determine
the
nature
and
course
of
ophthalmologic
abnormalities
and
their
clinical
significance
in
Cohen
syndrome
.
Observational
case
series
.
Twenty
-
two
Cohen
syndrome
patients
aged
2
to
57
years
were
examined
,
and
a
retrospective
review
of
ophthalmologic
records
was
carried
out
for
14
of
them
.
All
but
one
were
part
of
the
Finnish
study
of
refined
mapping
of
the
Cohen
syndrome
gene
by
linkage
disequilibrium
in
chromosome
8
.
Visual
acuity
(
VA
)
,
cycloplegic
refraction
,
biomicroscopy
,
lens
opacitometry
,
ophthalmoscopy
,
and
fundus
photography
.
With
the
exception
of
the
two
youngest
patients
,
all
had
symptoms
such
as
nyctalopia
,
impaired
vision
,
and
visual
field
loss
.
Progressive
,
often
high
-grade
myopia
,
astigmatism
,
and
retinochoroidal
dystrophy
resembling
retinitis
pigmentosa
occurred
in
all
,
except
for
the
youngest
patients
.
The
earliest
fundus
changes
were
pale
disc
and
pale
fundus
with
or
without
pigment
granularity
,
followed
by
narrowed
vessels
,
pigment
clumps
,
and
bone
spiculelike
pigment
accumulations
by
10
to
20
years
of
age
.
Pigment
deposits
increased
and
approached
the
posterior
pole
by
35
to
40
years
of
age
.
Patients
more
than
45
years
of
age
had
severe
retinochoroidal
atrophy
.
A
bull
'
s-
eye
macula
was
seen
in
most
patients
.
Teenagers
had
peripheral
lens
opacities
,
and
young
adults
had
early
nuclear
sclerosis
confirmed
by
lens
opacitometry
.
Older
patients
also
had
posterior
subcapsular
cataracts
,
iris
atrophy
,
and
iridophacodonesis
.
Vision
started
to
deteriorate
at
the
age
of
6
to
10
years
,
but
remained
relatively
good
(
VA
0
.
5
-
0
.
1
)
in
most
patients
until
30
and
,
in
one
case
,
46
years
of
age
.
Older
patients
were
severely
visually
handicapped
(
VA
hand
motion
to
light
perception
)
,
but
none
were
completely
blind
.
Progressive
myopia
and
retinochoroidal
dystrophy
are
essential
features
in
Cohen
syndrome
and
,
together
with
early
lens
opacities
,
lead
to
deterioration
of
vision
.
Cohen
syndrome
patients
need
careful
ophthalmologic
follow-up
at
all
ages
.
Nyctalopia
and
restricted
visual
fields
should
be
considered
when
planning
the
patient
's
daily
activities
.
Diseases
Validation
Diseases presenting
"visually handicapped"
symptom
cohen syndrome
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