Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
.