Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Idiopathic, isolated fovea plana with bilateral off-centre multifocal ERGs.
[oculocutaneous albinism]
The
purpose
of
this
paper
is
to
report
a
case
of
idiopathic
isolated
fovea
plana
showing
asymmetry
in
the
multifocal
electroretinogram
(
mfERG
)
.
We
carried
out
optical
coherence
tomography
(
OCT
)
imaging
,
macular
pigment
density
measurement
,
genetic
testing
and
electrophysiological
testing
with
visual
evoked
potentials
and
mfERGs
on
a
young
,
highly
myopic
female
of
Pakistani
origin
,
who
had
good
visual
acuity
and
no
nystagmus
.
OCT
imaging
revealed
a
complete
absence
of
any
foveal
pit
in
either
eye
.
Macular
pigment
density
was
normal
and
visual
evoked
potentials
indicated
normal
chiasmal
crossings
,
excluding
albinism
.
Genetic
testing
revealed
normal
PAX
6
coding
data
,
excluding
aniridia
as
a
cause
.
mfERGs
showed
asymmetry
consistent
with
off-centre
fixation
to
the
temporal
side
of
the
fovea
in
both
eyes
,
but
were
otherwise
normal
.
Lack
of
a
foveal
pit
is
a
well-known
finding
in
conditions
such
as
oculocutaneous
albinism
and
PAX
6
gene
-related
aniridia
.
Isolated
fovea
plana
is
less
common
,
and
this
case
illustrates
that
the
absence
of
a
foveal
pit
does
not
necessarily
result
in
a
poor
visual
outcome
.
The
finding
of
asymmetry
in
the
mfERG
in
such
a
case
is
novel
,
and
may
indicate
a
functional
adaptation
to
the
structure
of
the
fovea
.
Diseases
Validation
Diseases presenting
"complete absence of any foveal pit in either eye"
symptom
aniridia
oculocutaneous albinism
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom