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Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.
[homocystinuria without methylmalonic aciduria]
Cobalamin
C
methylmalonic
aciduria
with
homocystinuria
(
cblC
disease
)
is
a
rare
hereditary
inborn
error
of
cobalamin
metabolism
,
characterised
by
neurological
,
haematological
and
ophthalmological
abnormalities
.
Three
consecutive
patients
with
Cblc
disease
were
examined
.
Investigations
included
slit
lamp
and
fundus
examination
and
full-field
ERG
.
A
maculopathy
associated
with
both
photopic
and
scotopic
abnormal
ERG
was
present
in
two
cases
and
a
salt
and
pepper
retinopathy
with
abnormal
photopic
ERG
was
detected
in
the
third
patient
.
Despite
early
treatment
and
regular
metabolic
controls
,
all
our
patients
exhibited
both
retinal
and
ERG
abnormalities
.
There
was
no
correlation
between
funduscopic
appearance
and
the
type
of
photoreceptor
dysfunction
.
A
literature
review
disclosed
a
retinopathy
in
29
/
70
cases
with
cblC
disease
,
with
an
abnormal
ERG
in
8
of
the
12
tested
cases
,
most
with
retinopathy
.
Retinal
dysfunction
in
cblC
disease
may
be
more
frequent
than
previously
thought
,
and
can
involve
cones
only
or
both
rods
and
cones
.
We
recommend
a
formal
ocular
examination
with
full-field
ERG
in
patients
with
Cblc
disease
.
Diseases
Validation
Diseases presenting
"type of photoreceptor dysfunction"
symptom
homocystinuria without methylmalonic aciduria
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