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Visual follow-up in peroxisomal-disorder patients treated with docosahexaenoic Acid ethyl ester.
[zellweger syndrome]
Purpose
.
To
assess
the
possible
beneficial
effects
of
docosahexaenoic
acid
(
DHA
)
ethyl
ester
on
visual
function
in
DHA-
deficient
patients
with
peroxisome
biogenesis
disorders
(
PBDs
)
.
Methods
.
A
total
of
23
patients
were
studied
,
of
whom
2
had
classic
Zellweger
syndrome
and
1
had
a
D-
bifunctional
protein
(
DBP
)
deficiency
.
Most
of
the
PBD
patients
could
be
followed
up
,
but
for
only
nine
of
them
was
there
ophthalmic
baseline
data
to
enable
a
full
evaluation
of
the
visual
effects
of
the
treatment
.
A
daily
dose
of
200
mg
of
DHA
ethyl
ester
was
given
to
all
patients
.
Clinical
examination
,
visual
evoked
potentials
(
VEPs
)
,
and
electroretinogram
(
ERG
)
were
obtained
in
all
cases
.
Results
.
Nystagmus
disappeared
very
quickly
in
all
the
patients
.
The
retinal
appearance
remained
stable
in
all
but
one
.
Visual
acuity
was
maintained
without
deterioration
in
all
the
patients
.
The
electrophysiological
examination
showed
a
general
improvement
in
retinoneural
function
,
better
documented
in
those
patients
who
had
undergone
a
baseline
examination
,
but
also
in
two
children
whose
ERG
continued
to
improve
many
years
after
the
treatment
was
initiated
.
Conclusions
.
The
visual
improvement
obtained
with
DHA
therapy
emphasizes
the
deleterious
role
that
a
DHA
deficiency
plays
on
the
retina
,
especially
in
PBD
patients
,
with
retinas
virtually
devoid
of
DHA
.
These
data
,
together
with
those
reported
previously
,
indicate
that
the
DHA
deficiency
is
an
important
pathogenic
factor
in
peroxisomal
disorders
and
should
always
be
corrected
.
Treatment
with
DHA
ethyl
ester
,
given
as
early
as
possible
,
is
strongly
recommended
,
before
the
damage
becomes
irreversible
.
Diseases
Validation
Diseases presenting
"visual function"
symptom
adrenomyeloneuropathy
aniridia
coats disease
cohen syndrome
congenital toxoplasmosis
homocystinuria without methylmalonic aciduria
oculocutaneous albinism
zellweger syndrome
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