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A random Abstract
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CRB1: one gene, many phenotypes.
[coats disease]
Mutations
in
the
CRB
1
gene
cause
severe
retinal
degenerations
,
which
may
present
as
Leber
congenital
amaurosis
,
early
onset
retinal
dystrophy
,
retinitis
pigmentosa
,
or
cone-rod
dystrophy
.
Some
clinical
features
should
alert
the
ophthalmologist
to
the
possibility
of
CRB
1
disease
.
These
features
are
nummular
pigmentation
of
the
retina
,
atrophic
macula
,
retinal
degeneration
associated
with
Coats
disease
,
and
a
unique
form
of
retinitis
pigmentosa
named
para-arteriolar
preservation
of
the
retinal
pigment
epithelium
(
PPRPE
)
.
Retinal
degenerations
associated
with
nanophthalmos
and
hyperopia
,
or
with
keratoconus
,
can
serve
as
further
clinical
cues
to
mutations
in
CRB
1
.
Despite
this
,
no
clear
genotype-phenotype
relationship
has
been
established
in
CRB
1
disease
.
In
CRB
1
-
disease
,
as
in
other
inherited
retinal
degenerations
(
IRDs
)
,
it
is
essential
to
diagnose
the
specific
disease-causing
gene
for
the
disease
as
genetic
therapy
has
progressed
considerably
in
the
last
few
years
and
might
be
applicable
.
Diseases
Validation
Diseases presenting
"can serve as further clinical cues to mutations in crb1"
symptom
coats disease
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