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New ophthalmic features in a family with triple A syndrome.
[triple a syndrome]
We
report
three
subjects
of
a
Greek
family
affected
by
triple
A
syndrome
(
AAAS
)
.
All
patients
underwent
complete
ophthalmic
examination
,
full-field
electroretinogram
(
ERG
)
,
visual
evoked
responses
(
VER
)
,
optical
coherence
tomography
(
OCT
)
and
molecular
analysis
of
the
AAA
gene
.
All
patients
had
alacrima
.
In
two
of
them
,
the
proband
and
her
brother
,
bilateral
optic
atrophy
was
assessed
and
the
VER
were
pathological
.
In
contrast
,
the
ERG
was
normal
.
OCT
showed
a
decrease
of
the
retinal
nerve
fiber
layer
.
The
third
case
had
only
alacrima
and
the
optic
nerves
were
normal
.
The
molecular
genetic
study
of
the
AAAS
gene
revealed
a
homozygous
missense
mutation
p
.
Ala
167
Val
.
To
our
knowledge
this
is
the
first
time
a
family
with
AAAS
has
been
investigated
using
OCT
,
VER
and
ERG
.
Our
findings
illustrate
that
the
retina
is
not
involved
.
There
is
also
an
interfamilial
variability
concerning
the
involvement
of
the
optic
nerves
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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