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[Retinal involvement and genetic myopathy].
[coats disease]
In
genetic
diseases
,
association
between
retinal
and
muscular
involvement
is
uncommon
,
quite
specific
and
frequently
allows
the
diagnosis
.
In
this
context
,
three
types
of
retinal
involvement
have
been
described
:
retinitis
pigmentosa
(
RP
)
,
pattern
retinal
dystrophy
(
PRD
)
and
exudative
retinitis
resembling
Coats
disease
(
CD
)
.
The
association
between
RP
,
PRD
and
muscle
weakness
is
highly
evocative
of
a
mitochondrial
disorder
.
Extra
ocular
muscles
may
be
affected
,
but
limb
girdle
or
distal
weakness
can
also
be
present
in
association
or
not
with
symptoms
and
signs
of
multisystemic
involvement
.
In
a
large
number
of
patients
suffering
from
facioscapulohumeral
muscular
dystrophy
(
FSHD
)
,
retinal
vessels
telangectasia
can
be
found
at
the
fundoscopic
examination
.
This
finding
,
which
corresponds
to
a
developmental
abnormality
of
peripheral
retinal
blood
vessels
,
is
not
progressive
and
remains
clinically
asymptomatic
.
Nevertheless
,
a
few
patients
with
FSHD
can
develop
an
exsudative
retinopathy
resembling
Coats
disease
with
the
risk
of
the
major
complication
,
recurrent
retinal
detachments
.
Considering
the
diagnostic
interest
and
the
deleterious
consequences
that
may
follow
retinal
involvement
,
close
collaboration
between
the
neurologist
and
ophthalmologist
is
needed
in
order
to
establish
the
diagnosis
,
detect
complications
early
,
and
set
up
appropriate
therapies
.
Diseases
Validation
Diseases presenting
"is not progressive and remains clinically asymptomatic"
symptom
coats disease
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