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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
.
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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