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KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.
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To
identify
genetic
mutations
and
study
the
corneal
epithelium
in
Japanese
patients
with
Meesmann
corneal
dystrophy
.
Laboratory
investigation
and
prospective
observational
case
series
.
Slit-lamp
biomicroscopy
with
fluorescein
vital
staining
and
in
vivo
confocal
microscopy
were
performed
.
Mutation
screening
of
the
KRT
3
and
KRT
12
genes
was
performed
via
polymerase
chain
reaction
and
direct
sequencing
for
5
patients
in
2
families
.
Slit-lamp
biomicroscopy
revealed
multiple
corneal
intraepithelial
microcysts
in
all
patients
.
A
clear
zone
was
seen
in
the
younger
generation
,
whereas
mild
subepithelial
opacity
was
seen
in
the
older
generation
.
In
the
in
vivo
confocal
microscopy
,
numerous
corneal
intraepithelial
microcysts
and
hyperreflective
materials
,
which
were
believed
to
be
degenerative
cells
,
were
detected
closer
to
the
basal
layer
of
the
corneal
epithelium
in
older
patients
.
The
superficial
layer
contained
more
enlarged
microcysts
,
and
the
hyperreflective
materials
showed
atrophic
changes
,
as
compared
to
the
basal
layer
.
The
demarcation
line
between
the
microcysts
and
normal
epithelial
cells
was
clearly
visualized
by
in
vivo
confocal
microscopy
and
corresponded
to
the
demarcation
line
of
the
clear
zone
observed
by
the
slit-lamp
examination
.
Two
heterozygous
mutations
(
Q
130
P
,
L
140
Q
)
in
the
KRT
12
gene
,
one
of
which
(
L
140
Q
)
was
novel
,
were
identified
only
in
the
affected
patients
of
the
families
.
We
identified
a
novel
missense
mutation
of
the
KRT
12
gene
in
Meesmann
corneal
dystrophy
.
The
in
vivo
confocal
microscopy
examinations
revealed
previously
unreported
depth-dependent
ultrastructural
changes
in
the
living
cornea
of
Meesmann
corneal
dystrophy
patients
.