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Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report.
[oculocutaneous albinism]
Previous
studies
have
suggested
that
the
G
47
D
mutation
leads
patients
to
develop
Oculocutaneous
albinism
(
OCA
)
type
IA
.
This
mutation
has
been
described
in
the
Canary
Islands
.
Historically
,
there
has
been
a
migration
from
the
Canary
Islands
to
some
regions
of
Puerto
Rico
.
To
report
on
the
ocular
findings
of
two
Puerto
Rican
patients
with
OCA
IA
due
to
the
G
47
D
Tyrosinase
gene
mutation
.
PATIENT
AND
FINDINGS
:
Two
unrelated
patients
with
OCA
underwent
a
comprehensive
eye
examination
and
were
referred
for
genetic
analysis
.
Patients
had
almost
total
iris
transillumination
,
clear
lenses
,
foveal
hypoplasia
with
transparent
maculae
,
and
albinotic
mid
peripheries
.
Both
patients
had
nystagmus
,
and
only
one
patient
had
strabismus
.
Patients
with
the
G
47
D
muta-
tion
leading
to
OCA
IA
have
poor
visual
acuities
and
poorly
pigmented
phenotypic
ophthalmic
findings
.
Further
studies
comparing
ocular
findings
in
patients
th
several
mutations
leading
to
OCA
IA
are
warranted
.
To
our
knowledge
this
is
the
first
report
on
ocular
findings
in
Puerto
Rican
patients
with
OCA
type
IA
with
the
rare
G
47
D
mutation
.
Diseases
Validation
Diseases presenting
"hypoplasia with transparent maculae"
symptom
oculocutaneous albinism
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