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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
"pigmentation"
symptom
aniridia
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
epidermolysis bullosa simplex
erythropoietic protoporphyria
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kallmann syndrome
kindler syndrome
oculocutaneous albinism
oral submucous fibrosis
phenylketonuria
proteus syndrome
wiskott-aldrich syndrome
This symptom has already been validated