Current Opinion in Neurology,
Journal Year:
2024,
Volume and Issue:
38(1), P. 79 - 86
Published: Dec. 20, 2024
Purpose
of
review
Leber
hereditary
optic
neuropathy
(LHON)
is
a
mitochondrial
DNA
disease
characterised
by
sequential
bilateral
vision
loss
due
to
retinal
ganglion
cells.
The
purpose
this
provide
an
update
on
the
results
recent
clinical
trials
for
LHON,
focusing
studies
idebenone
and
lenadogene
nolparvovec
gene
therapy.
Recent
findings
Evidence
from
three
(RHODOS,
RHODOS-OFU,
LEROS)
suggest
that
should
be
started
early
continued
at
least
24
months.
Treatment
effect
varies
according
stage
LHON
underlying
mutation.
Favourable
outcomes
are
associated
with
m.11778G>A
mutation
chronic
eyes
m.14484T>C
Caution
taken
in
subacute/dynamic
m.3460G>A
mutation,
possible
worsening
idebenone.
Compared
external
natural
history
cohort,
pooled
data
four
(RESCUE,
REVERSE,
RESTORE
REFLECT)
show
single
intravitreal
injection
can
result
sustained
visual
improvement
patients
aged
≥15
years
when
treated
within
1
year
onset.
Although
treatment
modest,
final
acuity
(∼1.2
logMAR)
significantly
differs
published
benefit
more
pronounced
than
alone
Summary
There
increasing
evidence
potential
therapeutic
Frontiers in Neurology,
Journal Year:
2024,
Volume and Issue:
15
Published: Sept. 19, 2024
Leber’s
Hereditary
Optic
Neuropathy
(LHON)
is
a
maternally
inherited
optic
nerve
disease
primarily
caused
by
mutations
in
mitochondrial
DNA
(mtDNA).
The
peak
of
onset
typically
between
15
and
30
years,
but
variability
exists.
Misdiagnosis,
often
as
inflammatory
neuritis,
delays
treatment,
compounded
challenges
timely
genetic
diagnosis.
Given
the
availability
specific
treatment
for
LHON,
its
early
diagnosis
imperative
to
ensure
therapeutic
appropriateness.
This
work
gives
an
updated
guidance
about
LHON
differential
clinicians
dealing
also
with
multiple
sclerosi
neuromyelitis
optica
spectrtum
disorders-related
neuritis.
relies
on
clinical
signs
paraclinical
evaluations.
Differential
acute
phase
involves
distinguishing
neuropathies,
considering
clues
such
ocular
pain,
fundus
appearance
visual
recovery.
Imaging
analysis
obtained
Optical
Coherence
Tomography
(OCT)
assists
recognition
help
avoiding
misdiagnosis.
Genetic
testing
three
most
common
recommended
initially,
followed
comprehensive
mtDNA
sequencing
if
suspicion
persists
despite
negative
results.
We
present
discuss
crucial
strategies
accurate
management
cases.
Toxin Reviews,
Journal Year:
2024,
Volume and Issue:
unknown, P. 1 - 16
Published: Nov. 12, 2024
Methanol
is
a
toxic
alcohol.
Its
metabolite
formic
acid
directly
damages
the
retina
and
neurons.
This
study
aimed
to
investigate
currently
available
treatments
for
methanol-induced
optic
neuropathy.
We
systematically
searched
articles
in
Google
Scholar
National
Library
of
Medicine's
MEDLINE
Database
(PubMed)
from
1950
date
using
following
keywords:
1)
methyl
alcohol,
2)
methanol,
3)
retinal
toxicity,
4)
methanol
exposure
or
poisoning,
5)
antidote
treatment
cure.
The
were
reviewed
categorized
under
main
headings:
exposure,
toxicity
mechanism,
ocular
findings,
diagnosis,
(decontamination
support
treatment,
sodium
bicarbonate,
antidotes,
extracorporeal
adjunctive
specific
strategies
experimental
models,
erythropoietin,
antioxidant
neuroprotective
agents,
other
treatments).
remains
major
problem
worldwide,
especially
among
individuals
with
low
socioeconomic
status.
Unfortunately,
there
no
evidence-based
retinopathy;
however,
early
initiation
steroid
may
improve
prognosis.
Animal
experiments
randomized
controlled
clinical
studies
are
required
determine
efficacy
agents
effects
Genes,
Journal Year:
2024,
Volume and Issue:
15(12), P. 1559 - 1559
Published: Nov. 29, 2024
Background/Objectives:
Optic
neuropathies
are
a
category
of
illnesses
that
ultimately
cause
damage
to
the
optic
nerve,
leading
vision
impairment
and
possible
blindness.
Disorders
such
as
dominant
atrophy
(DOA),
Leber
hereditary
neuropathy
(LHON),
glaucoma
demonstrate
intricate
genetic
foundations
varied
phenotypic
manifestations.
This
narrative
review
study
seeks
consolidate
existing
knowledge
on
molecular
mechanisms
underlying
ocular
neuropathies,
examine
genotype-phenotype
correlations,
assess
novel
therapeutic
options
improve
diagnostic
treatment
methodologies.
Methods:
A
systematic
literature
was
performed
in
October
2024,
utilizing
PubMed,
Medline,
Cochrane
Library,
ClinicalTrials.gov.
Search
terms
encompassed
“optic
neuropathy”,
“genetic
variants”,
“LHON”,
“DOA”,
“glaucoma”,
“molecular
therapies”.
Studies
were
chosen
according
established
inclusion
criteria,
concentrating
dimensions
their
ramifications.
Results:
The
results
indicate
DOA
LHON
mostly
associated
with
mitochondrial
dysfunction
resulting
from
pathogenic
variants
nuclear
genes,
mainly
OPA1,
DNA
(mtDNA)
respectively.
Glaucoma,
especially
its
variants,
is
linked
genes
like
MYOC,
OPTN,
TBK1.
Molecular
mechanisms,
oxidative
stress
inflammatory
modulation,
pivotal
disease
progression.
Innovative
therapeutics,
including
gene
therapy,
RNA-based
treatments,
antioxidants
idebenone,
exhibit
promise
for
alleviating
nerve
safeguarding
vision.
Conclusions:
Genetic
investigations
have
markedly
enhanced
our
comprehension
neuropathies.
amalgamation
data
essential
customized
medical
strategies.
Additional
research
required
enhance
strategies
fill
gaps
understanding
pathophysiology.
interdisciplinary
approach
shows
potential
enhancing
patient
outcomes
VNU Journal of Science Medical and Pharmaceutical Sciences,
Journal Year:
2024,
Volume and Issue:
unknown
Published: July 5, 2024
Introduction:
Leber
hereditary
optic
neuropathy
(LHON)
is
a
rare
genetic
condition
characterized
by
bilateral
irreversible
vision
loss,
predominantly
affecting
young
males.
Case
presentation:
We
report
two
clinical
cases
of
male
patients
who
were
admitted
to
the
hospital
because
painless
loss.
Their
family
members
either
have
LHON
or
carry
mutation
that
in
their
gene.
Fundoscopic
examination
nerve
currently
appeared
temporal
pallor.
Orbital
Magnetic
Resonance
Imaging
(MRI)
scan
showed
hyperintensity
nerve.
Optical
Coherence
Tomography
(OCT)
head
and
retinal
fiber
layer
thinning
layer.
Humphrey
visual
field
revealed
paracentral
scotoma.
Genetic
testing
had
m.11778G
>
A
MT-ND4
They
both
treated
with
oral
Coenzyme
Q10
Idebenone.
Conclusions:
Leber's
may
mimic
neuritis
acute
phase,
requiring
precise,
systematic
evaluation
for
confirmation.
Current Opinion in Neurology,
Journal Year:
2024,
Volume and Issue:
38(1), P. 79 - 86
Published: Dec. 20, 2024
Purpose
of
review
Leber
hereditary
optic
neuropathy
(LHON)
is
a
mitochondrial
DNA
disease
characterised
by
sequential
bilateral
vision
loss
due
to
retinal
ganglion
cells.
The
purpose
this
provide
an
update
on
the
results
recent
clinical
trials
for
LHON,
focusing
studies
idebenone
and
lenadogene
nolparvovec
gene
therapy.
Recent
findings
Evidence
from
three
(RHODOS,
RHODOS-OFU,
LEROS)
suggest
that
should
be
started
early
continued
at
least
24
months.
Treatment
effect
varies
according
stage
LHON
underlying
mutation.
Favourable
outcomes
are
associated
with
m.11778G>A
mutation
chronic
eyes
m.14484T>C
Caution
taken
in
subacute/dynamic
m.3460G>A
mutation,
possible
worsening
idebenone.
Compared
external
natural
history
cohort,
pooled
data
four
(RESCUE,
REVERSE,
RESTORE
REFLECT)
show
single
intravitreal
injection
can
result
sustained
visual
improvement
patients
aged
≥15
years
when
treated
within
1
year
onset.
Although
treatment
modest,
final
acuity
(∼1.2
logMAR)
significantly
differs
published
benefit
more
pronounced
than
alone
Summary
There
increasing
evidence
potential
therapeutic
