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Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.
[coats disease]
Norrie
disease
(
ND
)
is
caused
by
mutations
in
the
ND
pseudoglioma
(
NDP
)
gene
(
MIM
300658
)
located
at
chromosome
Xp
11
.
4
-
p
11
.
3
.
ND
is
characterized
by
abnormal
retinal
vascular
development
and
vitreoretinal
disorganization
presenting
at
birth
.
Systemic
manifestations
include
sensorineural
deafness
,
progressive
mental
disorder
,
behavioral
and
psychological
problems
,
growth
failure
,
and
seizures
.
Other
vitreoretinopathies
that
are
associated
with
NDP
gene
mutations
include
X-
linked
familial
exudative
vitreoretinopathy
,
Coats
disease
,
persistent
fetal
vasculature
,
and
retinopathy
of
prematurity
.
Phenotypic
variability
associated
with
NDP
gene
mutations
has
been
well
documented
in
affected
male
patients
.
However
,
there
are
limited
data
on
signs
in
female
carriers
,
with
mild
peripheral
retinal
abnormalities
reported
in
both
carrier
and
noncarrier
females
of
families
with
NDP
gene
mutations
.
Here
,
we
report
a
family
harboring
a
single
base-pair
deletion
,
c
.
268
delC
,
in
the
NDP
gene
causing
a
severe
ND
phenotype
in
the
male
proband
and
peripheral
retinal
vascular
abnormalities
with
dragged
maculae
similar
to
those
observed
in
familial
exudative
vitreoretinopathy
in
his
carrier
mother
.
Diseases
Validation
Diseases presenting
"and retinopathy of prematurity"
symptom
coats disease
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