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Albinism in Europe.
[oculocutaneous albinism]
Albinism
is
a
rare
genetic
condition
associated
with
a
variable
hypopigmentation
phenotype
,
which
can
affect
the
pigmentation
of
only
the
eyes
or
both
the
eyes
and
the
skin
/
hair
,
resulting
in
ocular
(
OA
)
or
oculocutaneous
albinism
(
OCA
)
,
respectively
.
At
least
four
forms
of
OCA
and
one
of
OA
are
known
,
associated
with
TYR
(
OCA
1
)
,
OCA
2
(
OCA
2
)
,
TYRP
1
(
OCA
3
)
,
SLC
45
A
2
(
OCA
4
)
and
GPR
143
(
OA
1
)
loci
,
respectively
.
Additionally
,
the
rarest
syndromic
forms
of
albinism
,
affecting
the
normal
function
of
other
organs
,
can
be
grouped
in
Hermansky-
Pudlak
syndrome
(
HPS
1
-
9
)
and
the
Chediak-
Higashi
syndrome
(
CHS
1
)
.
In
summary
,
a
total
of
15
genes
are
currently
associated
with
various
types
of
albinism
.
However
,
new
genes
have
been
recently
described
,
associated
with
autosomal
recessive
oculocutaneous
albinism
with
highly
similar
phenotypes
but
diverse
molecular
origin
,
indicating
that
there
are
likely
to
be
more
than
15
genes
whose
mutations
will
be
associated
with
albinism
.
In
this
review
,
we
will
describe
the
different
types
of
albinism
and
comment
on
its
prevalence
in
European
countries
.
Some
preclinical
attempts
for
innovative
therapeutic
approaches
of
different
types
of
albinism
will
be
also
discussed
.
Diseases
Validation
Diseases presenting
"autosomal recessive oculocutaneous albinism with highly similar phenotypes but diverse molecular origin"
symptom
oculocutaneous albinism
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