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A Novel CYP1B1 Mutation with Congenital Glaucoma and Total Aniridia.
[aniridia]
Abstract
Purpose
:
Primary
congenital
glaucoma
is
a
common
disorder
in
the
Middle
East
mainly
caused
by
mutations
in
the
the
CYP
1
Bl
gene
.
We
report
a
family
with
three
siblings
that
presented
with
recalcitrant
childhood
glaucoma
,
aniridia
in
two
siblings
with
a
novel
CYP
1
B
1
gene
mutation
.
Materials
and
methods
:
Review
of
pedigree
,
clinical
history
and
clinical
course
of
the
family
.
Genetic
testing
in
the
affected
family
members
.
Results
:
Three
sisters
presented
with
clinical
findings
of
severe
congenital
glaucoma
and
a
positive
family
history
.
Clinical
examination
of
two
of
sisters
revealed
corneal
scarring
,
bilateral
aniridia
with
severe
glaucoma
that
required
multiple
surgical
procedures
to
control
intraocular
pressure
.
The
third
sibling
presented
with
garden
-variety
primary
congenital
glaucoma
.
Genetic
analysis
revealed
a
novel
CYP
1
B
1
gene
mutation
(
g
.
8291
C
 
>
 
T
;
p
.
S
485
F
)
.
Conclusion
:
CYP
1
B
1
mutation
related
congenital
glaucoma
can
present
with
an
extreme
form
of
anterior
segment
dysgenesis
that
includes
recalcitrant
glaucoma
,
corneal
opacification
and
aniridia
.
Diseases
Validation
Diseases presenting
"corneal scarring"
symptom
aniridia
junctional epidermolysis bullosa
This symptom has already been validated
