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Notch signaling in the pigmented epithelium of the anterior eye segment promotes ciliary body development at the expense of iris formation.
[aniridia]
The
ciliary
body
and
iris
are
pigmented
epithelial
structures
in
the
anterior
eye
segment
that
function
to
maintain
correct
intra-
ocular
pressure
and
regulate
exposure
of
the
internal
eye
structures
to
light
,
respectively
.
The
cellular
and
molecular
factors
that
mediate
the
development
of
the
ciliary
body
and
iris
from
the
ocular
pigmented
epithelium
remain
to
be
fully
elucidated
.
Here
,
we
have
investigated
the
role
of
Notch
signaling
during
the
development
of
the
anterior
pigmented
epithelium
by
using
genetic
loss
-
and
gain-of-function
approaches
.
Loss
of
canonical
Notch
signaling
results
in
normal
iris
development
but
absence
of
the
ciliary
body
.
This
causes
progressive
hypotony
and
over
time
leads
to
phthisis
bulbi
,
a
condition
characterized
by
shrinkage
of
the
eye
and
loss
of
structure
/
function
.
Conversely
,
Notch
gain-of-function
results
in
aniridia
and
profound
ciliary
body
hyperplasia
,
which
causes
ocular
hypertension
and
glaucoma
-like
disease
.
Collectively
,
these
data
indicate
that
Notch
signaling
promotes
ciliary
body
development
at
the
expense
of
iris
formation
and
reveals
novel
animal
models
of
human
ocular
pathologies
.
