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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
• 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 .
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
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
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)
CLINICAL FEATURE
• Leukokoria - 56%
• Strabismus -20%
• Painful Red Eye-07%
• Diminution Of Vision -05%
• Excessive Tearing
• Buphthalmos
• Corneal Clouding
• Iris Discoloration
• Painful Red Eye- Acute secondary Glaucoma
• Intraocular inflammation
• Orbital cellulitis
• Proptosis ,
• Conjuctiva – Congested
• Pseudohypopyon
• Spontaneous Hyphema
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
• Vision
• Retinoscopy
• Squint
• Ophthalmoscopy – Distant Direct
• Indirect
• B SCAN
• CT SCAN
• MRI
White Eye Reflex Proptosis
RETINOBLASTOMA , RETINOMA RETINOMA-
spontaneously arrested retinoblastoma Limited vascularity Greyish-white Speckled
Surrounding chorio-retinal atrophy RPE hypertrophy
PROPTOSIS , PSEUUDOHYPOPYON
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
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
Imaging In Retinoblastoma
CT Scan B Scan
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
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
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 ;
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.
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)
Retinoblastoma
Retinoblastoma

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Retinoblastoma

  • 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)
  • 6.
  • 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
  • 14.
  • 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
  • 18.
  • 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)