Science Advances,
Journal Year:
2025,
Volume and Issue:
11(4)
Published: Jan. 24, 2025
Genes
on
the
X
chromosome
are
extensively
expressed
in
human
brain.
However,
little
is
known
for
chromosome’s
impact
brain
anatomy,
microstructure,
and
functional
networks.
We
examined
1045
complex
imaging
traits
from
38,529
participants
UK
Biobank.
unveiled
potential
autosome–X
interactions
while
proposing
an
atlas
outlining
dosage
compensation
traits.
Through
extensive
association
studies,
we
identified
72
genome-wide
significant
trait-locus
pairs
(including
29
new
associations)
that
share
genetic
architectures
with
brain-related
disorders,
notably
schizophrenia.
Furthermore,
found
unique
sex-specific
associations
assessed
variations
effects
between
sexes.
Our
research
offers
critical
insights
into
role
brain,
underscoring
its
contribution
to
differences
observed
structure
functionality
Investigative Ophthalmology & Visual Science,
Journal Year:
2021,
Volume and Issue:
62(5), P. 3 - 3
Published: April 28, 2021
Risk
factor
analysis
provides
an
important
basis
for
developing
interventions
any
condition.
In
the
case
of
myopia,
evidence
a
large
number
risk
factors
has
been
presented,
but
they
have
not
systematically
tested
confounding.
To
be
useful
designing
preventive
interventions,
ideally
needs
to
carried
through
demonstration
causal
connection,
with
defined
mechanism.
Statistical
is
often
complicated
by
covariation
variables,
and
relationship
between
myopia
using
Mendelian
randomization
or
in
randomized
clinical
trial
should
aimed
for.
When
strict
this
kind
applied,
associations
various
measures
educational
pressure
are
consistently
observed.
However,
more
nearwork
generally
weak
inconsistent,
supported
meta-analysis.
Associations
time
outdoors
less
stronger
observed,
including
Measurement
traditionally
performed
questionnaires,
increasingly
being
pursued
wearable
objective
devices.
A
link
increased
years
education
confirmed
randomization,
whereas
protective
effect
from
development
trials.
Other
proposed
need
see
if
modulate
these
variables.
The
linking
screen
although
limitations
on
under
consideration
as
control
epidemic
myopia.
Investigative Ophthalmology & Visual Science,
Journal Year:
2021,
Volume and Issue:
62(5), P. 5 - 5
Published: April 28, 2021
Pathologic
myopia
is
a
major
cause
of
visual
impairment
worldwide.
distinctly
different
from
high
myopia.
High
degree
myopic
refractive
error,
whereas
pathologic
defined
by
presence
typical
complications
in
the
fundus
(posterior
staphyloma
or
maculopathy
equal
to
more
serious
than
diffuse
choroidal
atrophy).
often
occurs
eyes
with
myopia,
however
its
especially
posterior
can
also
occur
without
Owing
recent
advance
ocular
imaging,
an
objective
and
accurate
diagnosis
has
become
possible.
Especially,
optical
coherence
tomography
revealed
novel
lesions
like
dome-shaped
macula
traction
maculopathy.
Wide-field
succeeded
visualizing
entire
extent
large
staphylomas.
The
effectiveness
new
therapies
for
have
been
shown,
such
as
anti-VEGF
macular
neovascularization
vitreoretinal
surgery
Myopia,
childhood
increasing
rapidly
world.
In
parallel
increase
prevalence
increasing.
However,
it
remains
unclear
whether
not
will
itself.
addition,
remained
genes
responsible
are
same
those
general,
genetically
other
European Journal of Ophthalmology,
Journal Year:
2021,
Volume and Issue:
31(3), P. 853 - 883
Published: March 5, 2021
The
prevalence
of
myopia
is
increasing
extensively
worldwide.
number
people
with
in
2020
predicted
to
be
2.6
billion
globally,
which
expected
rise
up
4.9
by
2050,
unless
preventive
actions
and
interventions
are
taken.
individuals
high
also
substantially
pathological
become
the
most
common
cause
irreversible
vision
impairment
blindness
worldwide
Europe.
These
estimates
indicate
importance
reducing
burden
means
control
prevent
onset
slow
down
progression.
Due
urgency
situation,
European
Society
Ophthalmology
decided
publish
this
update
current
information
guidance
on
management
myopia.
pathogenesis
genetics
summarized
epidemiology,
risk
factors,
treatment
options
discussed
details.
Circulation,
Journal Year:
2021,
Volume and Issue:
145(2), P. 134 - 150
Published: Nov. 8, 2021
The
microvasculature,
the
smallest
blood
vessels
in
body,
has
key
roles
maintenance
of
organ
health
and
tumorigenesis.
retinal
fundus
is
a
window
for
human
vivo
noninvasive
assessment
microvasculature.
Large-scale
complementary
machine
learning-based
vasculature
with
phenome-wide
genome-wide
analyses
may
yield
new
insights
into
disease.
Journal of PHYSIOLOGICAL ANTHROPOLOGY,
Journal Year:
2024,
Volume and Issue:
43(1)
Published: Jan. 31, 2024
Abstract
Background
Myopia,
commonly
known
as
near-sightedness,
has
emerged
a
global
epidemic,
impacting
almost
one
in
three
individuals
across
the
world.
The
increasing
prevalence
of
myopia
during
early
childhood
heightened
risk
developing
high
and
related
sight-threatening
eye
conditions
adulthood.
This
surge
rates,
occurring
within
relatively
stable
genetic
framework,
underscores
profound
influence
environmental
lifestyle
factors
on
this
condition.
In
comprehensive
narrative
review,
we
shed
light
both
established
potential
contributors
that
affect
development
progression
myopia.
Main
body
Epidemiological
interventional
research
consistently
revealed
compelling
connection
between
increased
outdoor
time
decreased
children.
protective
effect
may
primarily
be
attributed
to
exposure
characteristics
natural
(i.e.,
sunlight)
release
retinal
dopamine.
Conversely,
irrespective
time,
excessive
engagement
near
work
can
further
worsen
onset
While
exact
mechanisms
behind
exacerbation
are
not
fully
comprehended,
it
appears
involve
shifts
relative
peripheral
refraction,
overstimulation
accommodation,
or
complex
interplay
these
factors,
leading
issues
like
image
defocus,
blur,
chromatic
aberration.
Other
spatial
frequency
visual
environment,
circadian
rhythm,
sleep,
nutrition,
smoking,
socio-economic
status,
education
have
debatable
independent
influences
development.
Conclusion
environment
exerts
significant
Improving
modifiable
key
predictors
spent
outdoors
prevent
slow
intricate
connections
often
obscure
findings,
making
challenging
disentangle
their
individual
effects.
complexity
necessity
for
prospective
studies
employ
objective
assessments,
such
quantifying
work,
among
others.
These
crucial
gaining
more
understanding
how
various
modified
PLoS ONE,
Journal Year:
2023,
Volume and Issue:
18(2), P. e0281816 - e0281816
Published: Feb. 16, 2023
Purpose
To
evaluate
the
efficacy
of
a
myopia
control
spectacle
lens
(DIMS)
at
slowing
progression
in
population
European
children
comparison
with
0.01%
atropine
and
combined
DIMS
atropine.
Methods
The
study
was
non-randomised
experimenter-masked
prospective
controlled
observational
individuals
aged
6–18
years
progressing
but
no
ocular
pathology.
Participants
were
allocated,
according
to
patient/parent
choice,
receive
eyedrops,
(Hoya
®
MiyoSmart
)
spectacles,
atropine+DIMS
or
single
vision
lenses
(control
group).
key
outcome
variables,
cycloplegic
autorefraction
spherical
equivalent
refraction
(SER)
axial
length
(AL),
measured
baseline
after
three,
six,
12
months.
Results
Of
146
participants
(mean
age
10.3y
±3.2),
53
received
atropine,
30
31
atropine+DIMS,
32
spectacles.
Generalized
linear
mixed
model
analysis
revealed
for
SER,
whilst
controlling
SER
baseline,
each
stage
all
treatment
groups
had
significantly
reduced
compared
group
(p<0.016).
For
AL,
6
months
less
than
(p<0.005).
only,
pairwise
comparisons
only
Atropine
(p<0.001).
Conclusion
In
population,
are
effective
reducing
elongation
most
successful
when
used
combination.
Nature Communications,
Journal Year:
2024,
Volume and Issue:
15(1)
Published: July 18, 2024
Abstract
The
retina,
an
anatomical
extension
of
the
brain,
forms
physiological
connections
with
visual
cortex
brain.
Although
retinal
structures
offer
a
unique
opportunity
to
assess
brain
disorders,
their
relationship
structure
and
function
is
not
well
understood.
In
this
study,
we
conducted
systematic
cross-organ
genetic
architecture
analysis
eye-brain
using
imaging
endophenotypes.
We
identified
novel
phenotypic
links
between
biomarkers
measures
from
multimodal
magnetic
resonance
(MRI),
many
associations
involving
primary
pathways.
Retinal
shared
influences
diseases
complex
traits
in
65
genomic
regions,
18
showing
overlap
MRI
traits.
Mendelian
randomization
suggests
bidirectional
causal
neurological
neuropsychiatric
such
as
Alzheimer’s
disease.
Overall,
our
findings
reveal
basis
for
connections,
suggesting
that
images
can
help
uncover
risk
factors
disorders
disease-related
changes
intracranial
function.
Vision Research,
Journal Year:
2024,
Volume and Issue:
220, P. 108402 - 108402
Published: May 4, 2024
Studies
in
animal
models
and
humans
have
shown
that
refractive
state
is
optimized
during
postnatal
development
by
a
closed-loop
negative
feedback
system
uses
retinal
image
defocus
as
an
error
signal,
mechanism
called
emmetropization.
The
sensor
to
detect
its
sign
resides
the
retina
itself.
and/or
pigment
epithelium
(RPE)
presumably
releases
biochemical
messengers
change
choroidal
thickness
modulate
growth
rates
of
underlying
sclera.
A
central
question
arises:
if
emmetropization
operates
system,
why
does
it
not
stop
myopia
development?
Recent
experiments
young
human
subjects
(1)
emmetropic
can
perfectly
distinguish
between
real
positive
simulated
defocus,
trigger
transient
axial
eye
shortening
or
elongation,
respectively.
(2)
Strikingly,
myopic
has
reduced
ability
inhibit
when
imposed.
(3)
bi-directional
response
elicited
with
low
spatial
frequency
information
below
8
cyc/deg,
which
makes
unlikely
optical
higher-order
aberrations
play
role.
(4)
for
detection
involves
comparison
blur
blue
(S-cone)
red
end
spectrum
(L
+
M-cones)
but,
again,
responsive,
at
least
short-term
experiments.
This
suggests
cannot
fully
inhibitory
arm
loop.
As
result,
open
loop,
becomes
"open-loop".