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Phenotype and genotype analysis in patients with macular corneal dystrophy.
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The
aim
of
this
study
was
to
analyse
corneal
morphological
organisation
and
identify
mutations
in
the
carbohydrate
sulfotransferase
6
gene
(
CHST
6
)
in
patients
with
macular
corneal
dystrophy
originating
in
a
Polish
population
.
M
acular
corneal
dystrophy
was
diagnosed
in
24
patients
based
on
the
slit-lamp
exam
,
confocal
microscopy
,
1310
 
nm
time
domain
and
840
 
nm
spectral
domain
optical
coherence
tomography
.
10
corneal
buttons
obtained
from
penetrating
keratoplasty
were
processed
for
light
microscopy
.
Genetic
analysis
of
the
CHST
6
gene
was
performed
,
followed
by
a
study
of
the
sequencing
results
.
Highly
reflective
,
diffuse
corneal
deposits
and
a
general
increase
in
reflectivity
were
revealed
with
optical
coherence
tomography
and
confocal
microscopy
.
The
deposits
extended
from
the
Bowman
layer
to
the
Descemet
membrane
and
correlated
with
the
Alcian
blue
-
positive
granular-filamentous
material
into
and
around
the
stromal
keratocytes
confirmed
by
structural
analysis
of
the
corneal
buttons
.
The
genetic
analysis
of
the
blood
samples
identified
the
following
mutations
and
single
nucleotide
polymorphisms
:
novel
P
64
L
(
heterozygous
)
,
Y
110
C
(
homozygous
)
,
R
162
G
and
L
200
R
,
and
M
1
L
(
heterozygous
and
homozygous
)
.
Genetic
mutation
heterogeneity
was
revealed
.
No
phenotype
heterogeneity
was
revealed
among
patients
with
in
vivo
corneal
morphology
assessment
or
histological
analysis
.
