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Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.
[triple a syndrome]
Triple-
A
syndrome
(
Allgrove
syndrome
)
is
an
autosomal
recessive
disorder
characterized
by
adrenal
insufficiency
,
alacrima
,
achalasia
,
and
-
occasionally
-
autonomic
instability
.
Mutations
have
been
found
in
the
AAAS
gene
on
12
q
13
.
We
present
the
case
of
a
12
year
-old
boy
with
classic
systemic
features
of
triple-
A
syndrome
and
several
prominent
ophthalmic
features
,
including
:
accommodative
spasm
,
dry
eye
,
superficial
punctate
keratopathy
,
and
pupillary
hypersensitivity
to
dilute
pilocarpine
.
MRI
showed
small
lacrimal
glands
bilaterally
.
DNA
sequencing
of
PCR-amplified
fragments
from
the
16
exons
of
the
AAAS
gene
revealed
compound
heterozygosity
for
a
new
,
out-of-frame
5
-
bp
deletion
in
exon
15
,
c
1368
-
1372
delGCTCA
,
and
a
previously-described
nonsense
mutation
in
exon
9
,
c
938
C
>
T
,
R
286
X
.
In
addition
to
known
ophthalmic
manifestations
,
triple-
A
syndrome
can
present
with
accommodative
dysregulation
and
ocular
signs
of
autonomic
dysfunction
.
Diseases
Validation
Diseases presenting
"autonomic instability"
symptom
triple a syndrome
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