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Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6.
[cystinuria]
In
this
report
,
an
8
-
year
-old
girl
is
presented
with
the
complaint
of
progressive
night
blindness
.
The
authors
have
performed
eye
funduscopy
,
which
showed
chorioretinal
atrophy
in
gyrate
shape
.
A
high
level
of
plasma
ornithine
was
determined
.
Urinary
excretion
of
ornithine
as
well
as
lysine
and
cystine
were
increased
.
Patient
was
treated
with
high
dose
pyridoxine
supplement
(
500
mg
/
dl
)
.
The
night
blindness
condition
of
the
patient
improved
.
After
1
month
of
pyridoxine
therapy
ornithine
level
of
her
plasma
was
successfully
reduced
and
blindness
improved
.
Diseases
Validation
Diseases presenting
"high level"
symptom
22q11.2 deletion syndrome
aniridia
cadasil
carcinoma of the gallbladder
cohen syndrome
congenital toxoplasmosis
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
hodgkin lymphoma, classical
inclusion body myositis
liposarcoma
lymphangioleiomyomatosis
omenn syndrome
oral submucous fibrosis
pyomyositis
scrub typhus
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
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