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Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening.
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The
identification
of
steep
corneal
curvatures
in
a
significant
percentage
of
patients
with
posterior
polymorphous
corneal
dystrophy
(
PPCD
)
confirms
this
previously
reported
association
and
suggests
a
role
for
the
ZEB
1
protein
in
keratocyte
function
.
To
determine
whether
PPCD
is
characterized
by
significant
corneal
steepening
.
Cross-sectional
study
at
university-based
and
private
ophthalmology
practices
of
38
individuals
(
27
affected
and
11
unaffected
)
from
23
families
with
PPCD
.
Slitlamp
examination
and
corneal
topographic
imaging
were
performed
for
individuals
with
PPCD
and
unaffected
family
members
.
Saliva
or
blood
samples
were
obtained
from
each
individual
for
DNA
isolation
and
ZEB
1
sequencing
.
Corneal
ZEB
1
expression
was
measured
using
immunohistochemistry
.
Percentage
of
individuals
affected
with
PPCD
and
controls
with
an
average
keratometric
value
greater
than
48
.
0
diopters
(
D
)
in
each
eye
;
the
mean
keratometric
value
averaged
for
both
eyes
of
individuals
with
PPCD
and
controls
;
and
the
correlation
of
ZEB
1
mutation
with
keratometric
value
.
ZEB
1
coding
region
mutations
were
identified
in
7
of
the
27
affected
individuals
.
Ten
of
the
38
individuals
(
26
.
3
%
)
had
average
keratometric
values
greater
than
48
.
0
D
OU
:
10
of
27
individuals
with
PPCD
(
37
.
0
%
;
6
of
7
individuals
with
ZEB
1
mutations
[
85
.
7
%
]
and
4
of
20
individuals
without
ZEB
1
mutations
[
20
.
0
%
]
)
and
0
of
11
unaffected
individuals
(
P
=
.
04
for
unaffected
vs
affected
individuals
;
P
=
.
004
for
individuals
with
PPCD
with
vs
without
ZEB
1
mutation
)
.
The
mean
keratometric
value
of
each
eye
of
affected
individuals
(
48
.
2
D
)
was
significantly
greater
than
that
of
each
eye
of
unaffected
family
members
(
44
.
1
D
)
(
P
=
.
03
)
.
Affected
individuals
with
ZEB
1
mutations
demonstrated
a
mean
keratometric
value
of
53
.
3
D
,
which
was
significantly
greater
than
that
of
affected
individuals
without
ZEB
1
mutations
(
46
.
5
D
;
P
=
.
004
)
.
Fluorescence
immunohistochemistry
demonstrated
ZEB
1
expression
in
keratocyte
nuclei
.
Abnormally
steep
corneal
curvatures
are
identified
in
37
%
of
all
individuals
with
PPCD
and
86
%
of
affected
individuals
with
PPCD
secondary
to
ZEB
1
mutations
.
ZEB
1
is
present
in
keratocyte
nuclei
,
suggesting
a
role
for
ZEB
1
in
keratocyte
function
.
Therefore
,
ZEB
1
may
play
a
role
in
both
corneal
stromal
and
endothelial
development
and
function
,
and
PPCD
should
be
considered
both
an
endothelial
dystrophy
and
an
ectatic
disorder
.
