VI.

PATHOPHYSIOLOGY

Precipitating Factors
Random somatic
mutation

Predisposing Factors
Age
Sex
Family history

Precipitating Factors
Random somatic
mutation

Predisposing Factors
Age
Sex

HEREDITARY

SPORADIC

Infant inherits
nonfunctional RB gene
from parent

Two normal RB genes

in the cells

Mutation in all genes of

the body

Retinal function
controlled by paired RB
gene

A single RB gene
controls the
proliferation of cells

Random mutation in
same retinal cell RB
gene

Loss of normal gene

function

Cell function controlled

by remaining functional
gene.

Ineffective stimulation
of E2F

Inappropriate
transcription of cell
cycle genes

2nd random mutation in

the same retinal cell
inactivates remaining
functional RB gene

Abolished RB gene
Ineffective stimulation
of E2F

Dysfunction of the antagonistic

homeostatic regulatory
mechanism of cell proliferation

Increased cell
proliferation

Genetic changes prevent cells from

producing functional pRB

Deregulated retinal cells

proliferates to form clones of
identical abnormal cells

Abnormal cells grow and divide

without control

Development of cancerous
tumor in one eye

UNILATERAL
RETINOBLASTOMA

If treated:
Method of treatment:

If not treated:

Chemotherapy
Enucleation
Exenteration

Dysfunctional retinal
cells continue to
metastasize

Control of the metastasis

of the abnormal cells

BILATERAL
RETINOBLASTOMA

If treated:
Method of treatment:

If not treated, cells

continue to metastasize to
other organs and systems

Chemotherapy
Enucleation
Exenteration

Pinealoma
Osteosarcoma
Melanoma

Control of the metastasis

of the abnormal cells

If treated:
Method of treatment:
Chemotherapy

Control of the metastasis

of the abnormal cells

If not treated, may

lead to death