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Ophthalmic findings in the Greek isolate of Cohen syndrome.
[cohen syndrome]
A
high
frequency
of
the
Cohen
syndrome
has
been
observed
in
a
Greek
island
with
2
,
000
inhabitants
and
a
high
degree
of
inbreeding
.
All
patients
were
homozygous
for
a
COH
1
,
exon
6
-
16
deletion
suggesting
a
founder
effect
.
We
present
the
results
of
their
first
systematic
ophthalmologic
assessment
.
Myopia
and
chorioretinal
atrophy
were
present
in
all
patients
of
this
cohort
.
Yet
,
in
contrast
to
all
groups
previously
reported
,
the
majority
presented
with
corneal
changes
,
independently
from
age
,
gender
,
and
family
history
.
A
pair
of
sisters
,
aged
11
and
15
years
old
,
presented
with
bilateral
keratoconus
.
More
frequently
(
86
%
)
than
in
any
other
ethnic
group
,
Greek
patients
had
cataracts
that
were
bilateral
and
often
graded
as
high
as
3
,
even
at
a
young
age
.
As
a
whole
,
the
ophthalmic
phenotype
of
the
Greek
isolate
of
Cohen
syndrome
is
characterized
by
the
involvement
of
both
the
posterior
and
the
anterior
eye
segment
,
bilaterally
,
in
the
majority
of
cases
(
93
%
)
.
Greek
Cohen
patients
that
share
a
founder
mutation
are
at
a
higher
risk
of
developing
blindness
in
respect
to
those
of
other
ethnicities
and
genotypes
.
This
study
highlighted
the
need
for
pachymetry
measurement
as
a
means
of
surveillance
and
prediction
of
the
visual
impairment
frequently
observed
.
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Diseases presenting
"other ethnic group"
symptom
cohen syndrome
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