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Proliferative retinopathy in Cowden syndrome.
[cowden syndrome]
Cowden
syndrome
is
a
multiple
hamartoma
syndrome
with
a
high
risk
of
breast
and
thyroid
tumours
,
both
benign
and
malignant
.
The
authors
report
a
24
-
year
-old
female
patient
who
presented
with
reduced
vision
in
both
eyes
.
Ocular
examination
showed
vitreous
haemorrhage
secondary
to
retinal
new
vessels
in
both
eyes
.
There
was
no
evidence
of
diabetes
mellitus
,
and
she
had
a
wide
range
of
normal
investigations
.
She
was
labelled
as
idiopathic
retinal
neovascularisation
.
Fifteen
years
later
,
she
presented
with
a
lump
in
her
left
breast
and
a
previous
history
of
excision
of
a
benign
lump
from
her
right
breast
.
She
also
reported
multiple
tumours
in
her
family
.
Clinical
diagnosis
of
Cowden
syndrome
was
made
and
genetic
testing
confirmed
mutation
of
the
PTEN
gene
.