Retinoblastoma: Epidemiology, Mortality Rate and Etiology

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.