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Clinical misdiagnosis of retinoblastoma in Indian children.
[coats disease]
To
determine
the
rate
of
clinical
misdiagnosis
in
paediatric
patients
who
were
enucleated
for
retinoblastoma
and
report
the
clinicopathological
features
of
cases
that
were
misdiagnosed
.
Retrospective
review
of
medical
records
of
children
who
underwent
a
primary
enucleation
for
advanced
retinoblastoma
was
done
.
In
all
cases
,
the
diagnosis
of
retinoblastoma
was
made
on
the
basis
of
clinical
presentation
and
imaging
modalities
.
Clinicopathological
features
of
eyes
with
discordant
clinical
and
histopathological
diagnosis
were
studied
in
detail
.
Of
280
eyes
(
280
patients
)
that
were
enucleated
over
a
4
-
year
period
,
histopathological
diagnosis
was
consistent
with
retinoblastoma
in
276
(
98
.
6
%
)
eyes
.
In
4
(
1
.
4
%
)
eyes
,
clinical
and
histopathological
diagnoses
were
discordant
.
Histopathological
features
in
misdiagnosed
cases
included
one
case
each
of
granulomatous
endophthalmitis
,
retinal
astrocytoma
,
Coats
'
disease
and
persistent
hyperplastic
primary
vitreous
.
To
the
best
of
our
knowledge
,
this
is
the
first
study
to
examine
the
rate
of
clinical
misdiagnosis
of
retinoblastoma
from
South
Asia
.
Despite
the
use
of
modern
preoperative
imaging
modalities
including
MRI
scans
,
benign
lesions
in
end-
stage
conditions
simulated
retinoblastoma
,
resulting
in
potentially
avoidable
enucleation
.
Diseases
Validation
Diseases presenting
"first study"
symptom
achondroplasia
acute rheumatic fever
alexander disease
aniridia
coats disease
congenital adrenal hyperplasia
cowden syndrome
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
krabbe disease
locked-in syndrome
oculocutaneous albinism
primary effusion lymphoma
waldenström macroglobulinemia
wiskott-aldrich syndrome
zellweger syndrome
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