Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism.
[oculocutaneous albinism]
The
purpose
of
this
work
was
to
describe
the
choroidal
structure
in
patients
with
oculocutaneous
albinism
(
OCA
)
.
20
eyes
of
10
patients
with
OCA
and
14
eyes
of
7
healthy
controls
were
recruited
for
the
study
.
Enhanced
depth
imaging
optical
coherence
tomography
(
OCT
)
images
of
the
subjects
were
taken
.
The
choroidal
thickness
(
CT
)
was
measured
from
the
outer
boarder
of
the
retinal
pigment
epithelium
to
the
inner
boarder
of
sclera
at
500
µm
intervals
of
a
horizontal
section
from
the
optic
disc
.
Statistical
analysis
was
performed
to
evaluate
variations
in
CT
at
subfoveal
and
peripapillary
areas
.
In
the
fundoscopic
examination
and
OCT
imaging
,
the
foveal
light
reflex
was
absent
and
the
foveal
pit
could
not
be
observed
in
all
of
the
patients
with
OCA
.
The
mean
subfoveal
CT
of
the
patients
with
OCA
was
significantly
thinner
(
242
±
56
µm
)
compared
with
healthy
controls
(
349
±
70
µm
)
(
p
<
0
.
001
)
;
while
there
was
no
statistically
significant
difference
in
the
peripapillary
CTs
of
the
patients
with
OCA
and
controls
(
157
±
42
µm
vs
151
±
31
µm
respectively
,
p
=
0
.
77
)
,
indicating
a
localised
abnormality
of
choroidal
anatomy
.
This
study
for
the
first
time
demonstrated
that
CT
is
decreased
in
patients
with
OCA
at
the
subfoveal
region
.
These
data
combined
with
the
underdevelopment
of
the
foveal
pit
indicate
that
there
is
a
generalised
developmental
or
genetic
abnormality
in
the
posterior
pole
of
patients
with
OCA
.
This
choroidal
structural
abnormality
might
be
related
to
the
previously
reported
failure
of
emmetropisation
in
these
children
.
Further
research
is
needed
to
understand
choroidal
metabolism
and
its
relationship
with
these
anatomical
changes
in
albinism
.
