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Relationship between foveal cone specialization and pit morphology in albinism.
[oculocutaneous albinism]
Albinism
is
associated
with
disrupted
foveal
development
,
though
intersubject
variability
is
becoming
appreciated
.
We
sought
to
quantify
this
variability
,
and
examine
the
relationship
between
foveal
cone
specialization
and
pit
morphology
in
patients
with
a
clinical
diagnosis
of
albinism
.
We
recruited
32
subjects
with
a
clinical
diagnosis
of
albinism
.
DNA
was
obtained
from
25
subjects
,
and
known
albinism
genes
were
analyzed
for
mutations
.
Relative
inner
and
outer
segment
(
IS
and
OS
)
lengthening
(
fovea-
to
-perifovea
ratio
)
was
determined
from
manually
segmented
spectral
domain-optical
coherence
tomography
(
SD
-
OCT
)
B-
scans
.
Foveal
pit
morphology
was
quantified
for
eight
subjects
from
macular
SD
-
OCT
volumes
.
Ten
subjects
underwent
imaging
with
adaptive
optics
scanning
light
ophthalmoscopy
(
AOSLO
)
,
and
cone
density
was
measured
.
We
found
mutations
in
22
of
25
subjects
,
including
five
novel
mutations
.
All
subjects
lacked
complete
excavation
of
inner
retinal
layers
at
the
fovea
,
though
four
subjects
had
foveal
pits
with
normal
diameter
and
/
or
volume
.
Peak
cone
density
and
OS
lengthening
were
variable
and
overlapped
with
that
observed
in
normal
controls
.
A
fifth
hyper-reflective
band
was
observed
in
the
outer
retina
on
SD
-
OCT
in
the
majority
of
the
subjects
with
albinism
.
Foveal
cone
specialization
and
pit
morphology
vary
greatly
in
albinism
.
Normal
cone
packing
was
observed
in
the
absence
of
a
foveal
pit
,
suggesting
a
pit
is
not
required
for
packing
to
occur
.
The
degree
to
which
retinal
anatomy
correlates
with
genotype
or
visual
function
remains
unclear
,
and
future
examination
of
larger
patient
groups
will
provide
important
insight
on
this
issue
.
Diseases
Validation
Diseases presenting
"absence of a foveal pit"
symptom
aniridia
oculocutaneous albinism
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