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Bilateral optic nerve aplasia: a rare isolated central nervous system anomaly.
[aniridia]
Optic
nerve
(
ON
)
aplasia
is
a
rare
developmental
anomaly
comprising
of
absence
of
the
ON
,
ganglion
cells
and
the
central
retinal
vessels
.
It
is
usually
accompanied
by
a
variety
of
central
nervous
system
(
CNS
)
malformations
.
We
report
an
extremely
rare
case
of
bilateral
true
ON
aplasia
occurring
as
an
isolated
CNS
anomaly
.
A
10
-
month
-old
female
child
was
detected
with
bilateral
absence
of
fixation
,
associated
with
multiple
ocular
findings
of
microcornea
,
anterior
embryotoxon
,
pupillary
corectopia
,
partial
aniridia
and
lens
coloboma
.
The
optic
disc
locations
were
visible
as
avascular
whitish
areas
.
There
were
no
retinal
vessels
seen
in
the
disc
area
or
elsewhere
.
There
were
bilateral
multiple
chorioretinal
atrophic
patches
present
.
B-
scan
ultrasonography
showed
bilateral
absence
of
ONs
.
Magnetic
resonance
imaging
showed
thinned
out
bilateral
ONs
with
a
hypoplastic
optic
chiasma
and
optic
tract
.
There
were
no
other
CNS
anomalies
.
Flash
visually
evoked
potential
was
unrecordable
.
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