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Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review.
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Many
of
the
corneal
dystrophies
have
now
been
genetically
characterized
,
and
a
system
was
established
in
2008
by
The
International
Committee
for
Classification
of
Corneal
Dystrophies
(
IC
3
D
)
in
an
attempt
to
standardize
the
nomenclature
.
IC
3
D
provided
a
classification
system
whereby
all
dystrophies
can
be
categorized
on
the
basis
of
the
underlying
genetic
knowledge
.
Since
that
time
,
further
work
has
established
even
more
phenotypic
and
allelic
heterogeneity
than
anticipated
,
particular
for
Fuchs
endothelial
corneal
dystrophy
and
posterior
polymorphous
dystrophy
.
Using
genome-
wide
association
studies
,
a
number
of
genes
are
now
implicated
both
in
normal
corneal
quantitative
traits
,
such
as
central
corneal
thickness
,
as
well
as
in
disease
.
There
is
also
a
trend
towards
functional
characterization
of
the
genetic
variants
involved
to
elucidate
the
pathophysiology
of
these
entities
.
This
review
article
will
provide
an
overview
of
the
knowledge
to
date
,
with
an
emphasis
on
findings
since
the
IC
3
D
classification
was
published
in
2008
.
