Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.
[]
Homozygous
mutations
in
SLC
4
A
11
cause
2
rare
recessive
conditions
:
congenital
hereditary
endothelial
dystrophy
(
CHED
)
,
affecting
the
cornea
alone
,
and
Harboyan
syndrome
consisting
of
corneal
dystrophy
and
sensorineural
hearing
loss
.
In
addition
,
adult-onset
Fuchs
endothelial
corneal
dystrophy
(
FECD
)
is
associated
with
dominant
mutations
in
SLC
4
A
11
.
In
this
report
,
we
investigate
whether
patients
with
CHED
go
on
to
develop
hearing
loss
and
whether
their
parents
,
who
are
carriers
of
an
SLC
4
A
11
mutation
,
show
signs
of
having
FECD
.
Patients
with
CHED
were
screened
for
mutations
in
the
SLC
4
A
11
gene
and
underwent
audiometric
testing
.
The
patients
and
their
parents
underwent
a
clinical
examination
and
specular
microscopy
.
Molecular
analyses
confirmed
SLC
4
A
11
mutations
in
4
affected
individuals
from
3
families
.
All
the
patients
were
found
to
have
varying
degrees
of
sensorineural
hearing
loss
at
a
higher
frequency
range
.
Guttate
lesions
were
seen
in
2
of
the
4
parents
who
were
available
for
examination
.
Our
observations
suggest
that
CHED
caused
by
homozygous
SLC
4
A
11
mutations
progresses
to
Harboyan
syndrome
,
but
the
severity
of
this
may
vary
considerably
.
Patients
with
CHED
should
therefore
be
monitored
for
progressive
hearing
loss
.
We
could
not
determine
conclusively
whether
the
parents
of
the
patients
with
CHED
were
at
increased
risk
of
developing
late-onset
FECD
.