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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
"early treatment"
symptom
acute rheumatic fever
allergic bronchopulmonary aspergillosis
benign recurrent intrahepatic cholestasis
cowden syndrome
fabry disease
familial mediterranean fever
homocystinuria without methylmalonic aciduria
kallmann syndrome
krabbe disease
omenn syndrome
phenylketonuria
pyomyositis
scrub typhus
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