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[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].
[oculocutaneous albinism]
Oculocutaneus
albinism
is
a
pigment-related
inherited
disorder
characterized
by
hypopigmentation
of
the
skin
,
hair
and
eyes
,
foveal
hypoplasia
and
low
vision
.
To
date
,
230
mutations
in
the
TYR
gene
have
been
reported
as
responsible
for
oculocutaneus
albinism
type
1
worldwide
.
TYR
gene
encodes
the
enzyme
tyrosinase
involved
in
the
metabolic
pathway
of
melanin
synthesis
.
Mutations
were
identified
in
the
TYR
gene
as
responsible
for
oculocutaneous
albinism
type
1
in
five
Colombian
individuals
,
and
a
new
ophthalmic
system
was
tested
that
corrected
visual
defects
and
symptoms
in
a
patient
with
oculocutaneous
albinism
.
Samples
were
taken
from
5
individuals
,
four
of
whom
belong
to
a
single
family
,
along
with
a
fifth
individual
not
related
to
the
family
.
Five
exons
in
the
TYR
gene
were
sequenced
to
search
for
the
gene
carriers
in
the
family
and
in
the
non-related
individual
.
In
addition
,
clinical
ophthalmological
evaluation
and
implementation
of
an
new
oculo-
visual
system
was
undertaken
.
A
G
47
D
and
1379
delTT
mutation
was
identified
in
the
family
.
The
unrelated
individual
carried
a
compound
heterozygote
for
the
G
47
D
and
D
42
N
mutations
.
The
oculo-
visual
corrective
system
was
able
to
increase
visual
acuity
and
to
diminish
the
nystagmus
and
photophobia
.
This
is
the
first
study
in
Colombia
where
albinism
mutations
are
reported
.
The
methods
developed
will
enable
future
molecular
screening
studies
in
Colombian
populations
.