Rare Diseases Symptoms Automatic Extraction
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Crystalline subtype of pre-descemetic corneal dystrophy.
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To
report
corneal
findings
in
a
familial
case
of
the
crystalline
subtype
of
pre-
Descemetic
corneal
dystrophy
.
A
19
-
year
-old
girl
and
her
44
-
year
-old
mother
were
found
to
have
asymptomatic
,
bilateral
,
punctiform
and
multi-colored
crystalline
opacities
across
the
whole
posterior
layer
of
the
corneas
.
Endothelial
specular
microscopy
revealed
the
presence
of
white
round
flecks
located
at
different
levels
anterior
to
the
endothelium
.
No
systemic
abnormalities
or
medications
could
be
related
to
account
for
these
findings
.
To
the
best
of
our
knowledge
,
this
is
the
third
familial
report
of
this
rare
corneal
disorder
.
Differential
diagnosis
may
include
Schnyder
corneal
dystrophy
,
cystinosis
,
Bietti
´
s
dystrophy
and
monoclonal
gammopathy
.