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Assessment of visual function in children with methylmalonic aciduria and homocystinuria.
[homocystinuria without methylmalonic aciduria]
The
aim
of
this
study
was
to
assess
various
aspects
of
visual
function
in
6
patients
(
age
range
:
9
months
to
7
years
and
8
months
)
with
methylmalonic
aciduria
and
homocystinuria
.
All
patients
had
an
ophthalmological
examination
and
were
tested
with
a
battery
of
age-appropriate
tests
assessing
various
aspects
of
visual
function
such
as
acuity
,
visual
fields
and
visual
attention
.
None
of
the
patients
had
significant
retinal
abnormalities
but
all
6
had
nystagmus
which
was
associated
with
strabismus
in
3
of
the
6
.
They
all
had
some
abnormalities
on
the
behavioral
tests
assessing
visual
function
which
appeared
to
be
related
to
the
age
of
the
patients
.
Visual
impairment
was
more
severe
in
the
3
patients
below
3
years
of
age
and
milder
in
the
older
patients
.
The
presence
and
the
severity
of
abnormalities
,
in
contrast
,
did
not
depend
on
the
age
at
onset
or
the
age
when
treatment
was
started
and
were
only
partly
related
to
brain
MRI
findings
.
Severe
hydrocephalus
and
basal
ganglia
involvement
were
associated
with
severe
visual
impairment
,
but
abnormal
visual
findings
were
also
present
in
the
children
with
normal
MRI
and
isolated
mild
periventricular
changes
.
Our
results
suggest
that
age
,
brain
lesions
and
other
factors
may
be
responsible
for
visual
abnormalities
in
methylmalonic
aciduria
and
homocystinuria
.
Further
studies
using
early
and
sequential
assessment
of
visual
function
are
needed
to
establish
whether
the
differences
observed
between
younger
and
older
children
may
be
related
to
the
duration
of
therapy
.
Diseases
Validation
Diseases presenting
"abnormal visual findings"
symptom
homocystinuria without methylmalonic aciduria
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