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Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications.
[homocystinuria without methylmalonic aciduria]
Abstract
Purpose
:
To
describe
the
retinal
structure
in
a
patient
with
cobalamin
C
(
cblC
)
disease
.
Methods
:
A
13
-
year
-old
male
patient
diagnosed
with
cblC
disease
during
a
perinatal
metabolic
screening
prompted
by
jaundice
and
hypotony
underwent
ophthalmic
examinations
,
electroretinography
(
ERG
)
and
spectral
domain
optical
coherence
tomography
(
SD
-
OCT
)
.
Results
:
The
patient
carried
a
homozygous
(
c
.
271
dupA
)
mutation
in
the
methylmalonic
aciduria
and
homocystinuria
type
C
(
MMACHC
)
gene
.
At
age
3
months
he
had
a
normal
eye
exam
.
A
pigmentary
maculopathy
progressed
to
chorioretinal
atrophy
from
5
-
10
months
.
ERG
at
7
months
was
normal
.
A
nystagmus
remained
stable
since
the
age
of
2
years
.
At
age
13
,
visual
acuity
was
20
/
250
(
right
eye
)
and
20
/
400
(
left
eye
)
,
with
a
+
5
.
00
D
correction
,
a
level
of
vision
maintained
since
first
measurable
at
age
5
years
.
SD
-
OCT
showed
bilateral
macular
coloboma
-like
lesions
;
there
was
also
a
thickened
surface
layer
with
ganglion
cell
layer
thinning
.
Photoreceptor
outer
segment
loss
and
thinning
of
the
outer
nuclear
layer
(
ONL
)
transitioned
to
regions
with
no
discernible
ONL
with
a
delaminated
,
thickened
,
inner
retina
.
Conclusions
:
A
thick
surface
layer
near
the
optic
nerve
resembling
an
immature
retina
and
an
initially
normal
macula
that
rapidly
developed
coloboma
-like
lesions
suggest
there
may
be
an
interference
with
retinal
/
foveal
development
in
cblC
,
a
mechanism
of
maculopathy
that
may
be
shared
by
other
early
onset
retinal
degenerations
.
Photoreceptor
loss
and
inner
retinal
remodeling
confirm
associated
photoreceptor
degeneration
.
Diseases
Validation
Diseases presenting
"a mechanism of maculopathy that may be shared by other early onset retinal degenerations"
symptom
homocystinuria without methylmalonic aciduria
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