This document provides information on retinoblastoma, a rare eye cancer that affects children. It is the most common primary intraocular tumor in childhood. Key points include that it can be hereditary or sporadic, presents most often as leukocoria, and if left untreated can be fatal. Treatment options described are various localized therapies as well as enucleation if needed. Differential diagnoses discussed include persistent hyperplastic primary vitreous, retinopathy of prematurity, ocular toxocariasis, and Coats' disease.

2. LEUKOCORIA
• White pupillary reflex

3. RETINOBLASTOMA
• the most common primary intraocular tumor of childhood.
• The incidence of retinoblastoma has been estimated to be 1 in 15,000
to 1 in 34,000 live births
• Both sexes are affected equally
• The average age at diagnosis is 18/24 months. Although cases have
been reported in adults, retinoblastoma is rare after age 4 years.
• Derived histogenically from primitive retinal cells that are capable
of differentiating into neuronal and glial elements.

4. • a hereditary form :
– Only 7 -10% of RB patients have positive family history.
– In affected families, the tumor frequently affects both eyes.
-- the average age at diagnosis is younger than non-heritable form
–ranging from newborn to 12 months
_ predisposed to a variety of cancers throughout life
-- 85% of heritable RB patients develop multiple , bilateral eye
tumors
NB. Bilaterality is a clinical marker for potentially transmissible
disease.

5. • About one third of all retinoblastomas are bilateral the
additional bilateral cases are caused by new germ-line
mutations.
• The great majority of retinoblastomas (90-93%)arise
sporadically --in patients with a negative family history.
• Sporadic tumors caused by somatic mutations are always
unilateral.

7. CLINICAL PRESENTATION
Depends on the size, location, growth pattern, and stage of the lesion at
diagnosis
- Leukocoria – 90%
caused by tumor in the vitreous cavity (endophytic
tumors) or total retinal detachment (exophytic tumors).
- Strabismus – about 1/3 of cases
- In underdeveloped countries, patients may present in the late stages
of the disease with a tumor that has extended extraocularly, causing
exophthalmos and an orbital mass.

8. • Other presenting Signs and Symptoms of Retinoblastoma
Uveitis
Hyphema
Glaucoma/rubeosis irides
Proptosis
Endophthalmitis/panophthalmitis
Orbital cellulitis
Visual obscuration
• The tumor does not cause pain or discomfort as it enlarges and
virtually never causes a red or inflamed eye early in the course of
the disease.

11. NATURAL HISTORY
• Retinoblastoma is a highly malignant neoplasm that
grows relentlessly and almost always has a fatal
outcome if untreated.

12. TREATMENT OPTIONS
• Cryotherapy for peripheral disease
• Direct laser photocoagulation for posterior disease
• Primary brachytherapy
• Chemoreduction
• Lens-sparing EBR consolidation for tumors that have
minimal response to chemotherapy.
• Enucleation

13. PERSISTENT HYPERPLASTIC PRIMARY
VITREOUS
• A congenital anomaly that is present at birth
• Characterized by the persistence of variable components of the
primary vitreous
• Usually unilateral
• Histopathologically, a plaque of fibrovascular tissue that resembles
primary vitreous adheres to the posterior lens capsule, and the
hyaloid artery is often patent.
• Rx :- Lensectomy, anterior vitrectomy

14. RETINOPATHY OF PREMATURITY
• bilateral disease and rarely present at birth
• In the 1950s accounted for almost half of causes of blindness in
children in European countries and USA; currently accounts for 10%
blindness.
• Classically, ROP develops in premature infants who have received
supplemental oxygen therapy.
• Infants weighing less than 1500 g at birth and those born at a
gestational age of less than 32 weeks are at risk for developing ROP.
Currently In industrialized countries due to improved monitoring
only neonates with ELBW [ <1000gm]are affected.
• Length of time in oxygen and mechanical ventilation are other risk
factors

15. Pathogenesis of ROP
• In the developing human fetus, the process of retinal blood vessel
development begins during the fourth month of gestation.
• Blood vessels grow outward from the optic disc and reach the
oraserrata nasally at 8 months and temporally around term.

16. Vascular proliferation and secondary vitreous fibrosis are thought to result
from the effect of oxygen on the immature, incompletely vascularized retina.

17. Treatment
• PHOTOCOAGULATION AND CRYOTHERAPY
• VITRECTOMY

18. OCULAR TOXOCARIASIS
• The most common inflammatory disease that simulates
retinoblastoma
• Ocular toxocariasis is an infestation by second-stage larvae of
the canine ascarid ,Toxocara canis, and an ocular
manifestation of visceral larval migrans.
• Leukocoria in toxocariasis results from the accumulation of
inflammatory cells or debris in the vitreous
• Ocular toxocariasis almost always occurs unilaterally in
children ages 6 to 11 years.

19. COATS' DISEASE
• Congenital retinal telangiectasia
• A developmental retinal vascular anomaly consisting of leaking
telangiectatic and aneurysmal retinal vessels with associated lipid
exudation
• Most frequently occurs in one eye of otherwise healthy, juvenile
boys.