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Investigating the relationship between foveal morphology and refractive error in a population with infantile nystagmus syndrome.
[oculocutaneous albinism]
We
explored
associations
between
refractive
error
and
foveal
hypoplasia
in
infantile
nystagmus
syndrome
(
INS
)
.
We
recruited
50
participants
with
INS
(
albinism
n
=
33
,
nonalbinism
infantile
nystagmus
[
NAIN
]
n
=
17
)
aged
4
to
48
years
.
Cycloplegic
refractive
error
and
logMAR
acuity
were
obtained
.
Spherical
equivalent
(
SER
)
,
most
ametropic
meridian
(
MAM
)
refractive
error
,
and
better
eye
acuity
(
VA
)
were
used
for
analyses
.
High
resolution
spectral-domain
optical
coherence
tomography
(
SD
-
OCT
)
was
used
to
obtain
foveal
scans
,
which
were
graded
using
the
Foveal
Hypoplasia
Grading
Scale
.
Associations
between
grades
of
severity
of
foveal
hypoplasia
,
and
refractive
error
and
VA
were
explored
.
Participants
with
more
severe
foveal
hypoplasia
had
significantly
higher
MAMs
and
SERs
(
Kruskal-
Wallis
H
test
P
=
0
.
005
and
P
=
0
.
008
,
respectively
)
.
There
were
no
statistically
significant
associations
between
foveal
hypoplasia
and
cylindrical
refractive
error
(
Kruskal-
Wallis
H
test
P
=
0
.
144
)
.
Analyses
demonstrated
significant
differences
between
participants
with
albinism
or
NAIN
in
terms
of
SER
and
MAM
(
Mann-
Whitney
U
test
P
=
0
.
001
)
.
There
were
no
statistically
significant
differences
between
astigmatic
errors
between
participants
with
albinism
and
NAIN
.
Controlling
for
the
effects
of
albinism
,
results
demonstrated
no
significant
associations
between
SER
,
and
MAM
and
foveal
hypoplasia
(
partial
correlation
P
>
0
.
05
)
.
Poorer
visual
acuity
was
associated
statistically
significantly
with
more
severe
foveal
hypoplasia
(
Kruskal-
Wallis
H
test
P
=
0
.
001
)
and
with
a
diagnosis
of
albinism
(
Mann-
Whitney
U
test
P
=
0
.
001
)
.
Increasing
severity
of
foveal
hypoplasia
is
associated
with
poorer
VA
,
reflecting
reduced
cone
density
in
INS
.
Individuals
with
INS
also
demonstrate
a
significant
association
between
more
severe
foveal
hypoplasia
and
increasing
hyperopia
.
However
,
in
the
absence
of
albinism
,
there
is
no
significant
relation
between
refractive
outcome
and
degree
of
foveal
hypoplasia
,
suggesting
that
foveal
maldevelopment
in
isolation
does
not
impair
significantly
the
emmetropization
process
.
It
likely
is
that
impaired
emmetropization
evidenced
in
the
albinism
group
may
be
attributed
to
the
whole
eye
effect
of
albinism
.
Diseases
Validation
Diseases presenting
"statistically significant differences"
symptom
aniridia
classical phenylketonuria
dentinogenesis imperfecta
esophageal carcinoma
esophageal squamous cell carcinoma
familial mediterranean fever
liposarcoma
oculocutaneous albinism
oral submucous fibrosis
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