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A Korean patient with lattice corneal dystrophy type IV with Leu527Arg mutation in the TGFBI gene.
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An
87
-
year
-old
woman
visited
our
clinic
for
a
scheduled
cataract
surgery
.
At
the
time
of
preoperative
evaluation
,
slit
lamp
examination
showed
lattice-shaped
and
granular
deposits
with
asymmetrical
patterns
in
the
stroma
of
both
corneas
.
Genomic
DNA
samples
of
the
patient
,
amplified
by
polymerase
chain
reaction
,
showed
a
single
nucleotide
substitution
,
c
.
1580
T
>
G
(
p
.
L
527
R
)
,
in
the
transforming
growth
factor
-β-induced
TGFBI
gene
.
We
also
found
two
additional
SNP
mutations
,
c
.
1620
T
>
C
(
p
.
F
5
40
F
)
and
c
.
1678
+
23
G
>
A
,
along
with
the
well-known
L
527
R
mutation
.
This
is
the
first
report
of
lattice
corneal
dystrophy
type
IV
with
an
L
527
R
mutation
outside
of
Japan
,
and
could
challenge
the
idea
that
L
527
R
is
caused
by
a
mutation
from
a
single
Japanese
ancestor
.
