This document discusses retinoblastoma, a rare eye cancer that affects children. It is the most common intraocular malignancy in childhood. If untreated, children typically die within 2-4 years of symptoms starting. The document covers epidemiology, genetics, clinical presentation, diagnosis, and management options like chemotherapy, radiation therapy, cryotherapy, laser therapy, and enucleation. Early detection and a multidisciplinary approach can help save the child's life and possibly preserve vision. Prognosis depends on factors like tumor size and extent of spread.

1. RETINA – RETINOBLASTOMA
18th June 2020 May 2020AL KERATITIS
DR M SAQUIB
MBBS,MS , FSCEH DELHI,FHVDESAI PUNE,
EX REGISTRARA JNMCH,AMU
CONSULTANT OPHTHALMOLOGIST
HOD D/O OPHTHALMOLOGY
G.S .MEDICAL COLLEGE
Founder sec: MEDICS India ,
Mail-dms2k5@gmail.com ,
9634123800

2. • Most common Intraocular Malignancy of the
Childhood in all racial group.
• Verhoeff -origin from undifferentiated retinal
cells, named retinoblastoma in 1900’s.
• Untreated children die of their disease within 2-4
year of onset of symptoms .
• Strong Tendency to invade Brain
via Optic Nerve and Metastatize .

3. EPIDEMIOLOGY & PATHOGENESIS
• Incidence 1: 15000-20000 live birth .
• Age – 1 year to 6 year
• Median Age 12 Month in Bilateral
• 24 Month in Unilateral
• Sex – Male = Female
• Race- Rare in Negros than Whites
• Unilateral – 60-70%- Multifocal
• Bilateral – 30 % - Single Tumor

4. GENETICS
• Non Heritable ( 90%) -Sporadic- Somatic (60%) ,Germline (30%)
Unilateral – 70%
• Heritable ( 10%) - Familial - Bilateral – 67%
• In Almost all cases of Retinoblastoma ,loss or inactivation of both
normal alleles of the Retinoblastoma genes.
• DNA sequence localized to a small segment of the long arm (the q14
region) of chromosome 13

5. Malignant Proliferation of immature Retinal Neural
Cells ,Small round cell with large Nuclei .Small
Round Blue Cell Tumor ( Nuclear Layer of Retina)
FLEXNER-WINTERSTEINER ROSETTES
HOMER –WRIGHT ROSEETTES .
Area of Necrosis and Calcification
Photoreceptor Differentiation of Individual
Retinoblast (Fleurettes)

7. CLINICAL FEATURE
• Leukokoria - 56%
• Strabismus -20%
• Painful Red Eye-07%
• Diminution Of Vision -05%
• Excessive Tearing
• Buphthalmos
• Corneal Clouding
• Iris Discoloration

8. • Painful Red Eye- Acute secondary Glaucoma
• Intraocular inflammation
• Orbital cellulitis
• Proptosis ,
• Conjuctiva – Congested
• Pseudohypopyon
• Spontaneous Hyphema

9. PRESENTATION
White round oval dome shaped retinal masses Attract
retinal BVs
Very small tumors - Translucent thickenings
Larger tumors- non rhegmatogenous RD
Tumors – extend via RPE- exophytic - into vitreous -
endophytic -generalised thickening-Infiltrating
Retinoblastoma
Ocassionally stops progressing-Retinoma
Severe necrosis-Phthisis

10. • Vision
• Retinoscopy
• Squint
• Ophthalmoscopy – Distant Direct
• Indirect
• B SCAN
• CT SCAN
• MRI

11. White Eye Reflex Proptosis

12. RETINOBLASTOMA , RETINOMA RETINOMA-
spontaneously arrested retinoblastoma Limited vascularity Greyish-white Speckled
Surrounding chorio-retinal atrophy RPE hypertrophy

13. PROPTOSIS , PSEUUDOHYPOPYON

15. PRDIFFERENTIAL DIAGNOSIS
Pseudoglioma OGNOSTIC FACTORS
• Differential Diagnosis of Leukokoria
• Coats’ disease
• Persistent hyperplastic primary vitreous
• Ocular toxocariasis
• retinopathy of prematurity
• Familial exudative vitreoretinopathy
• Incontinentia pigmenti retinopathy
• Norrie’s disease

16. DIAGNOSIS
• Examinatioon Under Anaesthesia –
• Mydriasis with Atropine , I.O.P- Neovascular Glaucoma
,Corneal Diameter
• X Ray – Orbit –Calcification
• Lactate Dehydrogenase (LDH)– Level –Increased
• CT – Bright on CT scan Infiltrating Retinoblastoma-tumor
multicentricity , extensive seeding into vitreous
• MRI – Most useful for evaluating sellar/parasellar Rule out-
ectopic intracranial RB Studying optic nerve & soft tissues
• Lumbar Puncure for CSF analysis
• Bone Marrow Aspiration or Biopsy

17. Imaging In Retinoblastoma
CT Scan B Scan

19. MANAGEMENT
• Primary goal-save life
• Salvage of the organ and function-secondary and tertiary
• Multidisciplinary approach
• Individualised –depends on
• 1. Age
• 2. Laterality
• 3. Location
• 4. Staging
• 5. Systemic condition
• 6. Overall progression
• 7. Cost effectivene

20. TREATMENT TREATMENT OPTIONS FOR
INTRAOCULAR RETINOBLASTOMA
• Intravenous chemotherapy
• Enucleation Radiation therapy
• • External beam radiation therapy
• • Plaque radiotherapy Laser therapy
• • Photocoagulation
• • Transpupillary thermotherapy (TTT)
Cryotherapy Observation (for spontaneously
arrested retinoblastoma, retinoma

21. Enucleation : Advanced Unilateral Retinoblastoma or B/L
advanced
• Intravenous Chemotherapy :
Bilateral Retinoblastoma or
Unilateral in salvagable
• CEV-Carboplatine
,Etoposide , Vicristine .3-4
Week Cycles
• In Extraocular Extension
cases
• Ophthalmic Artery Infusion
Chemotherapy : Central Ret
• Peri ocular Chemotherapy :
Posterior subtenon’s
Injection of Chemo agents.
• Intravitreal Chemo ;

22. Cryotherapy : Trans scleral Cryotherapy .Focal therapy
for Targeted mass.
• LASER THERAPY :
Photocoagulation: Argon
Laser
• Transpupillary
Thermotherapy ( TTT)
Infra Red Laser Beam
• External Beam Radiation
Therapy ( EBRT ) –
Regress Vascularised RB
• Plaque Radiation Therapy
:
• Iodine 125 Surgical
Implantation ,2-5 days
• Large but Localised RB.

23. Prognosis
• 2-4 Year after diagnosis if Untreated Died .
• Small to Medium size tumor ,NO seeding salvage with useful
vision.
• Prognostic Factors: Optic Nerve invasion
• Choroidal invasion
• Trans scleral tumor extension into orbit
• Classification :
• Reese-Ellsworth System
• International classification of Intraocular Retinoblastoma( ICIR)