Disparate X-linked retinoschisis phenotypes in fraternal twins with the same pathogenic variant in the RS1 gene
Ophthalmic Genetics,
Год журнала:
2025,
Номер
unknown, С. 1 - 4
Опубликована: Март 16, 2025
Introduction
In
X-linked
retinoschisis
(XLRS),
the
RS1
pathogenic
variant
and
patient's
age
might
be
most
important
determinants
of
XLRS
phenotype.
this
case
report,
we
present
fraternal
twins
with
same
mutation
who
were
examined
at
yet
exhibited
significantly
different
phenotypes.
Язык: Английский
A review of the 661W cell line as a tool to facilitate treatment development for retinal diseases
Cell & Bioscience,
Год журнала:
2025,
Номер
15(1)
Опубликована: Апрель 1, 2025
Abstract
Retinal
diseases
encompass
a
diverse
group
of
disorders
that
affect
the
structure
and
function
retina,
leading
to
visual
impairment
and,
in
some
cases,
irreversible
vision
loss.
The
investigation
retinal
is
crucial
for
understanding
their
underlying
mechanisms,
identifying
potential
therapeutic
targets,
developing
effective
treatments.
use
vitro
cell
models
has
become
instrumental
advancing
our
knowledge
these
disorders,
but
given
conditions
usually
neuronal
types,
access
appropriate
can
be
potentially
challenging.
Among
available
models,
661W
cone-like
line
emerged
as
valuable
tool
studying
various
diseases,
ranging
from
monogenic
conditions,
such
inherited
complex
age-related
macular
degeneration
(AMD),
diabetic
retinopathy,
amongst
others.
Developed
immortalized
murine
photoreceptor
cells,
freely
academics
its
creator,
offered
scientists
clinicians
around
world
reliable
well-characterised
platform
investigating
disease
pathogenesis,
exploring
disease-specific
molecular
signatures,
evaluating
interventions.
This
review
aims
provide
an
overview
applications
study
both
acquired
diseases.
By
examining
limitations
this
unique
line,
we
may
gain
insights
into
contributions
unravelling
complexities
impact
on
development
novel
treatments
Язык: Английский
Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations
Cell Death and Disease,
Год журнала:
2024,
Номер
15(9)
Опубликована: Сен. 18, 2024
Язык: Английский
Multidisciplinary Approaches in the Treatment of Retinal Degenerative Diseases: A Review
Advanced Therapeutics,
Год журнала:
2023,
Номер
7(2)
Опубликована: Ноя. 21, 2023
Abstract
Retinal
degenerative
diseases
(RDDs)
cause
irreversible
blindness
and
affect
≈285
million
individuals
worldwide.
The
unavailability
of
treatment
to
stop
the
progression
RDDs
or
restore
normal
visual
function
necessitated
development
novel
therapeutic
strategies.
In
recent
years,
multidisciplinary
approaches
have
shown
great
potential
for
RDDs,
including
intraocular
delivery
systems,
retinal
scaffolds
cell
therapy,
prostheses
with
different
stimulation
This
review
focuses
on
prospects
shortcomings
various
RDDs.
results
this
will
hopefully
inspire
further
innovation
in
design
RDD
accelerate
their
commercialization.
Язык: Английский