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[The role of ophthalmological examination in the diagnosis of gangliosidosis GM1].
[gm1 gangliosidosis]
Gangliosidosis
GM
1
belongs
to
a
group
of
lysosomal
storage
diseases
and
results
from
the
deficiency
of
acidic
beta
-galactosidase
activity
.
The
enzyme
is
essential
for
the
degradation
of
ganglioside
GM
1
and
its
derivatives
.
The
disease
causes
multi-organ
injury
,
however
accumulation
of
ganglioside
GM
1
mainly
in
the
brain
white
and
gray
matter
results
in
predomination
of
neurological
symptoms
.
Based
on
the
actual
knowledge--the
condition
is
untreatable
and
especially
in
the
very
severe
infantile
form
,
the
duration
of
the
survival
is
very
short
.
One
of
the
characteristic
symptoms
of
some
lysosomal
storage
diseases
,
including
gangliosidosis
GM
1
,
is
"
cherry-
red
"
spot
found
in
the
fundus
of
the
eye
.
In
the
publication
the
clinical
course
of
gangliosidosis
GM
1
in
two
infants
is
presented
.
The
value
of
an
ophthalmological
examination
in
the
diagnosis
of
this
rare
condition
has
been
emphasized
.
Diseases
Validation
Diseases presenting
"very severe infantile form"
symptom
gm1 gangliosidosis
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