Rare Diseases Symptoms Automatic Extraction
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Acquired myelinated nerve fibers in association with optic disk drusen.
[kabuki syndrome]
Myelinated
retinal
nerve
fibers
are
a
well-recognized
anomaly
of
the
ocular
fundus
associated
with
many
ocular
and
systemic
conditions
.
Myelination
is
almost
always
congenital
and
stable
,
but
progression
has
been
documented
in
rare
cases
.
Optic
disk
drusen
are
the
result
of
a
degenerative
process
at
the
optic
nerve
head
and
are
often
found
incidentally
on
ophthalmologic
examination
.
To
our
knowledge
,
optic
disk
drusen
have
only
been
reported
once
in
association
with
acquired
and
progressive
myelinated
retinal
nerve
fibers
.
We
present
2
such
cases
and
consider
the
implications
for
the
pathogenesis
of
myelinated
nerve
fibers
.
Diseases
Validation
Diseases presenting
"progressive myelinated retinal nerve fibers"
symptom
kabuki syndrome
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