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The unique association of iris heterochromia with Hermansky-Pudlak syndrome.
[oculocutaneous albinism]
Melanin
biosynthesis
is
reduced
in
oculocutaneous
albinism
,
an
autosomal
recessive
disorder
.
Hermansky-
Pudlak
syndrome
is
associated
with
oculocutaneous
albinism
but
also
has
systemic
complications
.
The
ocular
and
systemic
phenotypes
vary
,
depending
,
in
part
,
on
the
genetic
mutations
.
This
report
presents
a
case
of
a
patient
with
Hermansky-
Pudlak
syndrome
and
the
unique
association
of
iris
heterochromia
.
Diseases
Validation
Diseases presenting
"oculocutaneous albinism but also has systemic complications"
symptom
oculocutaneous albinism
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