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Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22.
[cohen syndrome]
To
analyze
the
mechanisms
of
myopia
in
Cohen
syndrome
(
Mendelian
Inheritance
in
Man
[
MIM
]
no
.
216550
)
.
A
cross-sectional
study
of
22
Finnish
patients
(
age
range
,
2
-
57
years
)
with
Cohen
syndrome
,
which
maps
to
chromosome
8
q
22
,
was
undertaken
to
record
cycloplegic
refraction
,
keratometry
(
corneal
power
and
radius
of
curvature
)
,
biometry
(
anterior
chamber
depth
[
ACD
]
,
lens
thickness
[
LT
]
,
axial
[
AL
]
and
vitreal
length
[
VL
]
)
,
and
Hoffer
Q-
modeled
lens
power
.
These
components
of
refraction
were
correlated
to
age
and
spherical
equivalent
(
SE
)
at
the
corneal
plane
.
Contribution
to
total
myopia
of
refractive
(
corneal
and
lenticular
)
and
axial
components
was
modeled
by
multiple
linear
regression
and
by
estimating
the
effect
of
deviation
from
population
mean
values
.
The
mean
SE
in
patients
with
Cohen
syndrome
older
than
10
years
was
-
9
.
35
D
;
the
mean
cylinder
power
,
+
1
.
70
D
;
and
the
mean
anisometropia
,
0
.
53
D
.
Relative
to
the
emmetropic
eye
of
a
young
adult
,
the
AL
and
VL
(
mean
,
23
.
9
and
16
.
6
mm
,
respectively
)
and
lens
power
(
mean
,
30
.
30
D
)
were
higher
in
74
%
and
93
%
of
patients
,
respectively
,
and
the
ACD
(
mean
,
2
.
5
mm
)
was
smaller
and
the
LT
(
mean
,
4
.
9
mm
)
and
corneal
power
(
mean
,
45
.
63
D
)
higher
than
average
in
all
patients
.
Corneal
power
(
r
=
0
.
513
,
P
=
0
.
021
)
increased
with
age
,
but
AL
and
VL
(
P
=
0
.
46
and
0
.
54
,
respectively
)
and
lens
power
(
P
=
0
.
89
)
did
not
correlate
with
age
.
The
lens
power
decreased
with
AL
(
r
=
-
0
.
564
,
P
=
0
.
029
)
and
tended
to
increase
with
corneal
power
(
r
=
0
.
475
,
P
=
0
.
074
)
.
Multiple
linear
regression
identified
AL
and
corneal
power
as
independent
predictors
of
SE
.
Based
on
deviation
from
population
means
,
the
lens
power
explained
55
%
,
corneal
power
23
%
,
and
AL
22
%
of
total
myopia
.
ACD
decreased
and
LT
increased
markedly
with
age
,
rendering
angle-closure
glaucoma
a
possibility
.
Myopia
in
Cohen
syndrome
is
mainly
refractive
in
type
and
is
due
to
high
corneal
and
lenticular
power
,
which
is
otherwise
rare
in
young
patients
.
It
may
be
superimposed
on
axial
myopia
,
probably
related
to
polygenic
factors
that
determine
myopia
in
the
general
population
.
The
refractive
myopia
in
Cohen
syndrome
may
result
from
dysgenesis
and
atrophy
of
the
cornea
,
ciliary
body
,
and
iris
,
which
in
turn
cause
iridial
and
zonular
laxity
and
spherophakia
.
Diseases
Validation
Diseases presenting
"probably related to polygenic factors that determine myopia in the general population"
symptom
cohen syndrome
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