Indian Journal of Ophthalmology - Case Reports,
Journal Year:
2023,
Volume and Issue:
3(4), P. 1191 - 1192
Published: Oct. 1, 2023
Keratoglobus
is
a
rare
noninflammatory
corneal
thinning
disorder
categorized
by
progressive
diminution
of
vision
resulting
from
irregular
topography
and
increased
fragility
due
to
extreme
thinning.
It
associated
with
blue
sclera,
hyperextensibility
the
joints,
or
auditory
problems.
Down's
syndrome
usually
not
much
visual
disturbance.
We
report
an
unusual
incidence
adult
male
presenting
bilateral
keratoglobus.
Life,
Journal Year:
2023,
Volume and Issue:
13(6), P. 1363 - 1363
Published: June 10, 2023
Keratoconus
is
a
disease
of
the
cornea
that
results
in
progressive
steepening
and
thinning
subsequent
vision
loss.
It
nearly
always
presents
as
bilateral
disease,
suggesting
there
an
underlying
abnormality
corneas
becomes
manifest
with
time.
However,
mechanisms
development
keratoconus
are
largely
unknown.
Associations
reported
between
systemic
diseases
abundant
literature,
list
possible
associations
very
long.
We
found
atopy,
Down
syndrome,
various
connective
tissue
were
most
frequently
cited
our
broad
literature
search.
Additionally,
Diabetes
Mellitus
has
been
increasingly
studied
protective
factor
against
keratoconus.
In
this
review,
we
have
summarized
evidence
for
these
particular
conditions
discussed
some
implications
patients
having
conditions.
International Journal of Molecular Sciences,
Journal Year:
2024,
Volume and Issue:
25(5), P. 2968 - 2968
Published: March 4, 2024
Down
syndrome
is
a
well-studied
aneuploidy
condition
in
humans,
which
associated
with
various
disease
phenotypes
including
cardiovascular,
neurological,
haematological
and
immunological
processes.
This
review
paper
aims
to
discuss
the
research
conducted
on
gene
expression
studies
during
fetal
development.
A
descriptive
was
conducted,
encompassing
all
papers
published
PubMed
database
between
September
1960
2022.
We
found
that
amniotic
fluid,
certain
genes
such
as
COL6A1
DSCR1
were
be
affected,
resulting
phenotypical
craniofacial
changes.
Additionally,
other
GSTT1,
CLIC6,
ITGB2,
C21orf67,
C21orf86
RUNX1
also
identified
affected
fluid.
In
placenta,
dysregulation
of
like
MEST,
SNF1LK
LOX
observed,
turn
nervous
system
brain,
DYRK1A,
DNMT3L,
DNMT3B,
TBX1,
olig2
AQP4
has
been
shown
contribute
intellectual
disability.
cardiac
tissues,
dysregulated
GART,
ETS2
ERG
cause
abnormalities.
Furthermore,
XIST,
RUNX1,
SON,
STAT1
contributing
myeloproliferative
disorders.
Understanding
differential
provides
insights
into
genetic
consequences
DS.
better
understanding
these
processes
could
potentially
pave
way
for
development
pharmacological
therapies.
Investigative Ophthalmology & Visual Science,
Journal Year:
2024,
Volume and Issue:
65(6), P. 22 - 22
Published: June 13, 2024
Purpose:
It
is
necessary
to
establish
a
mouse
model
of
keratoconus
(KC)
for
research
and
therapy.
We
aimed
determine
corneal
phenotypes
in
3
Ppip5k2
models.
Methods:
Central
thickness
(CCT)
was
determined
using
spectral
domain
optical
coherence
tomography
(SD-OCT)
Ppip5k2+/K^
(n
=
41
eyes),
Ppip5k2K^/K^
17
eyes)
2
knock-in
mice,
Ppip5k2S419A/+
54
Ppip5k2S419A/S419A
18
Ppip5k2D843S/+
42
Ppip5k2D843S/D843S
44
at
6
months.
Pachymetry
maps
were
generated
the
Mouse
Corneal
Analysis
Program
(MCAP)
process
OCT
images.
Slit
lamp
biomicroscopy
used
any
abnormalities,
and,
last,
hematoxylin
eosin
(H&E)
staining
sections
from
these
animals
examine
morphological
changes.
Results:
CCT
significantly
decreased
months
mice
compared
their
littermate
controls.
OCT-based
pachymetry
revealed
abnormally
localized
thinning
all
three
models
wild-type
(WT)
examinations
abnormalities
form
bullous
keratopathy,
stromal
edema,
scarring,
deep
neovascularization,
opacities
heterozygous/homozygous
comparison
with
histological
such
as
epithelial
thickening
layer
damage,
observed
WT
Conclusions:
have
identified
phenotypic
changes
corneas
lines
that
could
be
relevant
development
animal
KC.
Expert Review of Ophthalmology,
Journal Year:
2024,
Volume and Issue:
19(5), P. 379 - 391
Published: June 27, 2024
Keratoconus
(KC)
is
the
most
prevalent
corneal
ectasia
in
world
and
its
pathogenesis
influenced
by
both
ocular
systemic
factors.
This
review
explores
multifaceted
associations
between
keratoconus
health
conditions,
characteristics,
various
other
environmental/exogenous
factors,
aiming
to
illuminate
how
these
relationships
influence
pathophysiology
of
disease.
Diagnostics,
Journal Year:
2022,
Volume and Issue:
12(12), P. 3027 - 3027
Published: Dec. 2, 2022
There
are
different
fundamental
diagnostic
strategies
for
patients
with
ectatic
corneal
diseases
(ECDs):
screening,
confirmation
of
the
diagnosis,
classification
type
ECD,
severity
staging,
prognostic
assessment,
and
clinical
follow-up.
The
conscious
application
such
enables
individualized
treatments.
need
improved
diagnostics
ECD
is
related
to
advent
therapeutic
refractive
procedures
that
considered
prior
keratoplasty.
Among
less
invasive
procedures,
we
include
crosslinking,
customized
ablations,
intracorneal
ring
segment
implantation.
Besides
paradigm
shift
in
managing
enhancing
sensitivity
detect
very
mild
forms
disease,
characterizing
inherent
susceptibility
ectasia
progression,
became
relevant
identifying
at
higher
risk
progressive
iatrogenic
after
laser
vision
correction
(LVC).
Moreover,
hypothesis
keratoconus
a
factor
delivering
baby
Down's
syndrome
potentially
augments
relevance
ECD.
Multimodal
imaging
involves
technologies,
including
Placido-disk
topography,
Scheimpflug
3-D
tomography,
segmental
or
layered
tomography
epithelial
thickness
using
OCT
(optical
coherence
tomography),
digital
high-frequency
ultrasound
(VHF-US),
ocular
wavefront.
Corneal
biomechanical
assessments
genetic
molecular
biology
tests
have
translated
measurements.
Artificial
intelligence
allows
integration
plethora
data
has
proven
its
facilitating
decisions,
allowing
personalized
