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Macular corneal dystrophy and associated corneal thinning.
[]
PurposeTo
identify
the
molecular
genetic
cause
of
macular
corneal
dystrophy
(
MCD
)
in
four
probands
,
and
characterize
phenotypic
similarities
between
MCD
and
keratoconus
.
MethodsWe
performed
ophthalmological
examination
,
Scheimpflug
imaging
(
Pentacam
,
Oculus
Inc
.
)
,
histopathological
examination
of
excised
corneal
buttons
,
and
direct
sequencing
of
the
CHST
6
coding
region
.
R
esultsPentacam
measurements
were
taken
in
six
eyes
of
three
probands
.
All
showed
diffuse
corneal
thinning
with
paracentral
steepening
of
the
anterior
corneal
surface
that
was
graded
as
keratoconus
by
the
integrated
software
,
but
without
associated
ectasia
of
the
posterior
corneal
surface
or
regional
thinning
.
Homozygous
or
compound
heterozygous
CHST
6
mutations
were
identified
in
all
cases
,
including
two
novel
mutations
,
c
.
13
C
>
T
;
p
.
(
Arg
5
Cys
)
and
c
.
289
C
>
T
;
p
.
(
Arg
97
Cys
)
.
DiscussionLocalized
elevation
of
the
anterior
corneal
curvature
can
occur
in
MCD
in
the
absence
of
other
features
of
keratoconus
.
The
identification
of
a
further
two
Czech
probands
with
the
compound
allele
c
.
[
484
C
>
G
;
599
T
>
G
]
supports
the
enrichment
of
this
allele
in
the
study
population
.
