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Concentric macular rings sign in patients with foveal hypoplasia.
[oculocutaneous albinism]
We
describe
a
sign
that
can
be
used
as
a
rapid
and
noninvasive
adjunct
to
aid
in
the
diagnosis
of
foveal
hypoplasia
.
To
describe
a
concentric
macular
rings
sign
found
on
infrared
reflectance
(
IRR
)
images
in
patients
with
foveal
hypoplasia
.
We
studied
13
patients
with
foveal
hypoplasia
(
7
with
ocular
albinism
[
OA
]
,
5
with
oculocutaneous
albinism
[
OCA
]
,
and
1
with
aniridia
)
at
a
tertiary
ophthalmology
center
with
access
to
electrodiagnostic
services
from
February
18
,
2009
,
through
April
9
,
2013
.
All
patients
and
an
age-matched
control
participant
underwent
a
complete
clinical
examination
,
electroretinography
(
full
field
and
pattern
)
,
visual
evoked
potentials
,
fundus
autofluorescence
IRR
,
and
optical
coherence
tomography
(
OCT
)
.
One
patient
with
OA
and
the
control
participant
also
underwent
scanning
laser
polarimetry
with
variable
corneal
compensation
(
GDx
VCC
)
.
Thirteen
patients
(
6
girls
and
7
boys
)
,
with
a
mean
age
of
5
.
8
years
(
range
,
3
-
11
years
)
,
were
included
in
the
study
.
Seven
patients
were
diagnosed
as
having
OA
and
had
minimal
clinical
signs
(
fine
nystagmus
in
2
patients
and
subtle
iris
transillumination
in
5
patients
)
.
Five
patients
with
OCA
and
1
with
aniridia
were
also
included
.
In
12
patients
,
OA
and
OCA
were
confirmed
with
5
-
channel
visual
evoked
potentials
(
optic
nerve
misrouting
)
.
Whenever
OCT
was
performed
,
foveal
hypoplasia
was
indicated
by
the
lack
of
foveal
dip
.
The
macula
lacked
the
foveal
attenuation
normally
seen
with
fundus
autofluorescence
,
and
a
concentric
macular
rings
reflex
was
seen
with
IRR
in
all
13
patients
and
with
GDx
VCC
in
1
patient
.
A
normal
bowtie
reflex
was
seen
with
IRR
and
GDx
VCC
in
the
age-matched
control
participant
.
Our
findings
suggest
that
concentric
macular
rings
seen
on
IRR
or
GDx
VCC
can
occur
in
patients
with
foveal
hypoplasia
and
can
therefore
aid
in
the
diagnosis
,
especially
in
patients
with
minimal
clinical
signs
(
mild
OA
)
or
in
cases
in
which
OCT
can
not
be
performed
(
young
patients
or
patients
with
high
-amplitude
nystagmus
)
.
Diseases
Validation
Diseases presenting
"electroretinography"
symptom
aniridia
oculocutaneous albinism
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