00:02
Welcome back!
We're into the final two sessions
in the pathology of the eye.
00:08
We're going to talk about
neoplasms, tumors of the eye,
because they are important
and they are can be illustrative
of a number of interesting pathology
and actually even genetics.
00:21
I want to acknowledge, as always,
in all of this ophthalmology
that we've been
talking about together,
none of this would have happened
without the expert help
and assistance, and vision.
00:32
No pun intended, of Dr. Jose Mata,
who has been my partner in crime
preparing these slide decks.
00:38
So, retinoblastomas.
00:42
This is going to be
a tumor of the retina.
00:44
Yeah, it makes sense.
00:45
What you're seeing
on the right hand side
is a cross section of an eye
from a patient
who had developed retinoblastoma.
00:53
That's the big white, bulky thing
that you see in the
more superior aspect.
00:58
Off to the right is going to be
the optic nerve.
01:01
So in the treatment of very
aggressive or advanced disease,
we may have to do
a complete enucleation.
01:08
Increasingly, we're able
to treat these often
without having
to remove the eye.
01:14
We'll come back to that.
01:16
So, in epidemiology.
01:18
Retinoblastoma
is the most common primary
interocular malignancy of childhood.
01:26
Remarkably, there's an incidence
of about 1 in 15,000 live births
in United States.
01:30
So it's not vanishingly rare.
01:33
It is actually something that occurs
with a fair degree of frequency.
01:37
The median age of diagnosis is
usually before the second birthday.
01:42
And we'll talk a little bit about
how that diagnosis can be made.
01:48
Fortunately, as we're getting
much much better at treating this,
it's an excellent
10 year survival rate
for retinoblastoma,
whether it's of the genetic variety,
or the acquired variety.
02:02
90 to 95% can be cured
with just local excision.
02:05
If we catch it very early,
we don't even have to remove
the eye.
02:11
Hereditary retinoblastoma.
02:12
Because of the genetic changes
that are associated with that,
that we'll see
in the next few slides,
has an increased risk.
02:19
Those patients have an
increased risk of developing
additional primary tumors,
including sarcomas,
melanomas, and glioblastomas.
02:28
That's because
they have a germline mutation
in the retinoblastoma gene or RB.
02:35
The RB gene is going to be
the major driver
of the hereditary forms
of retinoblastoma.
02:43
It's found on chromosome 13.
02:45
It is a cause of retinoblastoma
in 98% of cases.
02:48
There can be other mutations clearly
very infrequent,
that can also lead
to tumors of the retina.
02:58
What happens
as we'll see in the next slide,
mutations of the RB gene
cause loss of the normal
regulation of cell proliferation.