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Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
[homocystinuria without methylmalonic aciduria]
To
assess
and
compare
longitudinal
visual
function
and
retinal
morphology
in
patients
with
methylmalonic
aciduria
with
homocystinuria
,
cobalamin
C
type
(
cblC
)
,
and
identified
mutations
in
the
MMACHC
gene
.
Vision
function
,
anterior
segment
,
and
fundi
were
evaluated
in
patients
with
homozygous
or
compound
heterozygous
MMACHC
mutations
.
Best-corrected
visual
acuity
,
full-field
electroretinogram
(
ERG
)
,
refractive
error
,
and
retinopathy
were
assessed
and
compared
for
different
genotypes
and
ages
at
onset
,
defined
as
early
(
<
1
year
of
age
)
or
late
(
>
5
years
)
.
We
identified
7
patients
(
homozygous
mutation
:
6
of
7
;
compound
heterozygous
mutations
:
1
of
7
)
between
the
ages
of
3
months
and
20
.
6
years
.
Six
patients
were
reexamined
after
3
.
2
to
11
.
5
years
(
mean
,
6
.
5
)
Ocular
phenotype
ranged
from
normal
to
severely
compromised
visual
function
.
Visual
acuity
was
reduced
from
0
.
2
logMAR
to
counting
fingers
and
from
0
.
0
to
0
.
3
logMAR
in
the
early
-
(
3
of
7
)
and
in
the
late-onset
group
(
4
of
7
)
,
respectively
.
No
retinopathy
was
evident
in
the
late-onset
group
.
Only
patients
with
the
homozygous
c
.
547
_
548
delGT
mutations
(
n
=
2
)
demonstrated
advanced
retinopathy
associated
with
cone-rod
or
rod-cone
dysfunction
.
Retinopathy
occurred
despite
systemic
treatment
for
cblC
.
Ocular
phenotype
in
patients
with
cblC
is
variable
.
Ocular
involvement
seems
to
be
correlated
with
age
at
onset
.
Patients
with
early
-onset
cblC
developed
generally
progressive
retinal
disease
ranging
from
subtle
retinal
nerve
fiber
layer
loss
to
advanced
macular
and
optic
atrophy
with
"
bone
spicule
"
pigmentation
.
Patients
with
late-onset
disease
showed
no
definite
evidence
of
retinal
degeneration
.
Diseases
Validation
Diseases presenting
"subtle retinal nerve fiber layer loss"
symptom
homocystinuria without methylmalonic aciduria
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