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Abnormal lateral geniculate nucleus and optic chiasm in human albinism.
[oculocutaneous albinism]
Our
objective
was
to
measure
how
the
misrouting
of
retinal
ganglion
cell
(
RGC
)
fibers
affects
the
organization
of
the
optic
chiasm
and
lateral
geniculate
nuclei
(
LGN
)
in
human
albinism
.
We
compared
the
chiasmal
structures
and
the
LGN
in
both
pigmented
controls
and
patients
with
albinism
by
using
high
-resolution
structural
magnetic
resonance
imaging
(
MRI
)
.
We
studied
12
patients
with
oculocutaneous
albinism
and
12
age-matched
pigmented
controls
.
Using
a
3
T
MRI
scanner
,
we
acquired
a
T
1
-
weighted
three
-dimensional
magnetization-prepared
rapid
gradient-
echo
(
MPRAGE
)
image
of
the
whole
brain
,
oriented
so
that
the
optic
nerves
,
chiasm
,
and
tracts
were
in
the
same
plane
.
We
acquired
multiple
proton
density-weighted
images
centered
on
the
thalamus
and
midbrain
,
and
averaged
them
to
increase
the
signal
,
enabling
precise
manual
tracing
of
the
anatomical
boundaries
of
the
LGN
.
Albinism
patients
exhibited
significantly
smaller
diameters
of
the
optic
nerves
,
chiasm
and
tracts
,
and
optic
chiasm
and
LGN
volume
compared
with
controls
(
P
<
0
.
001
for
all
)
.
The
reductions
in
chiasmal
diameters
in
the
albinism
compared
with
the
control
group
can
be
attributed
to
the
abnormal
crossing
of
optic
fibers
and
the
reduction
of
RGCs
in
the
central
retina
.
The
volume
of
the
LGN
devoted
to
the
center
of
the
visual
field
may
be
reduced
in
albinism
due
to
fewer
RGCs
representing
the
area
where
the
fovea
would
normally
lie
.
Our
data
may
be
clinically
useful
in
addressing
how
genetic
deficits
compromise
proper
structural
and
functional
development
in
the
brain
.
