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Optic nerve atrophy in adrenoleukodystrophy detectable by optic coherence tomography.
[adrenomyeloneuropathy]
The
adrenoleukodystrophies
(
ALDs
)
are
a
group
of
metabolic
disorders
characterised
by
the
accumulation
of
very
long
-chain
fatty
acids
in
all
tissues
.
The
two
most
frequent
ALD
phenotypes
are
adult-onset
adrenomyeloneuropathy
(
AMN
)
and
childhood
cerebral
ALD
.
Visual
system
involvement
in
the
adult
phenotype
is
well
described
as
impairment
of
visual
function
and
optic
disc
pallor
on
clinical
examination
accompanied
by
demyelination
of
the
optic
nerves
seen
on
MRI
.
Thinning
of
the
retinal
nerve
fiber
layer
and
ganglion
cell
death
has
been
described
in
a
neonatal
form
of
ALD
.
Our
patient
provides
evidence
,
through
ocular
coherence
tomography
scanning
of
the
retina
,
that
such
degenerative
changes
also
underlie
the
visual
dysfunction
seen
in
the
AMN
phenotype
.
