retinoblastoma case in a 3 years old male child ,diagnosed in our hospital bokaro general hospital , jharkhand in advanced stage.

1. Presenting author-Dr Priyanka (DNB RESIDENT)
DEPARTMENT OF OPHTHALMOLOGY

2. Complaints
A 3 years old male child presented with chief complaints of redness,
watering and white reflex in right eye for last 2 months , in eye o.p.d.
Of BGH ON 19th march ,2015.
MAIN COMPLAINTS
EYE SYMPTOM DURATION ONSET
&
PROGRESSION
Right white reflex ,
eye redness & 2 months Gradual
watering
Left within normal limits
Eye

3. Past ocular History
No history of trauma or eye infection
Watering and redness seen which improved
by
Local steroid, antibiotic & lubricant.
BCVA : PL -ve PR inaccuate (RE) & 6/6 (LE)

4.  Occupational history: Nil Relevant
 Past medical history: Nil Relevant
 Family history: 15 years old sister with thallasaemia
major, no history of similar complaints in family
 Developmental history: born full term ,healthy and
developmental milestones adequate for age
* allergy history: nil Relevant
Visual Acuity testing
EYE BCVA
Right PL –ve , PR inaccurate
Left 6/6

5. Ocular examinations
 Face/Lid/Eye lash: Both eye normal
 Ocular positions normal and ocular movements of
both eyes, full and free in all directions of gaze
 Direct ophthalmoscopy: Right eye- white reflex in
pupillary region(leucocoria), pupillary reaction to
light sluggish and patient was not following light.

6. Ocular examinations
palpebral conjunctiva & fornix RE-mild
superficial congestion+
PUPIL
Right eye Left eye
Size normal normal
Shape circular circular
Color white normal
Reaction to light sluggish reacting
Reaction to near constricted constricted

7. Ocular examinations
IRIS/ANTEROR CHAMBER/SCLERA
Right eye Left eye
Sclera normal normal
Iris detail normal normal
AC normal normal

8. Ocular examinations
POSTERIOR SEGMENT
By direct ophthalmoscopy fundus examination done
Fundus (R/E): white cauliflower like growth obscuring the
details of the fundus.
GENERAL & SYSTEMIC EXAMINATION
No significant abnormality detected

9. INVESTIGATIONS
-USG B-scan: (Date: 31-03-2015 ) - RIGHT EYE: vitreous
shows few low reflective dot echoes. 2 large
retinochoroidal mass lesions noted with following
dimensions.
Inferonasal mass lesion
Circumferential 10.9 mm
Anteroposterior 14.5 mm
Height 13.3 mm

10. Inferior and temporal mass lesion
 Basal diameter 16.8 mm
 Height 14.0 mm
 Retina appears to be attached throughout
 Specks of calcification seen posteriorly
 No extraocular extension

11. Left eye USG B-scan: WNL

12. MRI REPORT(date- 30-03-2015): brain and
orbit
Ill defined T2 hypointense lesion in right
globe filling the vitreous. Isointense signal
in T1 W1 and hypointense signal in T2 W1.
restricted diffusion with total retinal
detachment noted. No extraocular
extension.
This suggested of retinoblastoma right eye,
with no abnormality in brain parenchyma.

13. T2 image showing hypointense
mass

14. T1 Image - isointense lesion

15. RETINOBLASTOMA MASS IN MRI

16. RESTRICTED DIFFUSION NOTED

17. Histopathology report: 07/04/2015
Right eye: Retinoblastoma , endophytic and exophytic
combined well differentiated with Fleurette
formation at places, retinal pigment invasion. There
is no invasion of choroid, no invasion of optic
nerve

18. Treatment
- After diagnosis , this pt referred to higher
center for further management
- Treatment at higher center: for group D
retinoblastoma(date- 07/04/2015)
Enucleation with 18 mm optic nerve stump
followed by silicon ball implantation(RE)
under GA.
Post op- ciplox eye ointment , syp. Amoxycillin
,syp. Crocin
Reviwed after 2 days.

19. Enucleation with 18 mm optic
nerve stump

20. Follow up
At 1st month,3rd month,6th month, 7th month and at 8th
month
- No recurrence
-No distance metastasis
-No choriod and optic nerve invasion
-BMA and CSF showed no invasion

21.  Reviewed on 12/11/2015 .
 laboratory investigations and physicians both eye
exam. Under GA
 MRI Report(14/11/2015): optic nerve sheath
enhancement almost upto the apex, prominent
leptomeningeal enhancement
 BMA(18/11/2015): -ve for malignancy
 CSF(16/11/2015): -ve for malignancy
 Bone marrow smear(16/11/2015): normal study


22. POST CONTRAST STUDY- OPTIC
NERVE SHEATH ENHANCEMENT with
silicon ball implant in situ

23. PROMINENT LEPTOMENINGEAL
ENHANCEMENT- LINEAR
HYPERINTENSE SIGNALS

24.  1st cycle of chemotherapy given on 20/11/2015 with:
 Inj. Vincristine 0.75 mg i.v.(d1),
 Inj. Carboplatin 400 mg in 100 ml 5% dextrose
over 2 hrs(d1)
 Inj. Etoposide 150 mg in 100 ml NS over 1 hr.(d1d2)
 Next review : 10/12/2015 - 2nd cycle
 01/01/2016 - 3rd cycle
 23/01/2016 - 4th cycle

25. After enucleation and silicon ball
implantation

26. Discussion
-most common intraocular malignancy in children
with incidence ranging from 1 in 15,000 to 1 in
18,000 live births.
- Represents approx. 4% of all pediatric malignancy
- Though congenital, not diagnosed at birth and
usually manifest in 1-3 years of birth.
- 6% familial, 94% sporadic
- Boys and girls : same frequency
- RB1 gene on long arm chromosome 13

27. COMMON CLINICAL FEATURES-
RETINOBLASTOMA
 1. LEUCOCORIA - 56%
 2. STRABISMUS - 20%
 3. RED PAINFUL EYE - 7%
 4. POOR VISION - 5%
 5. ASYMPTOMATIC - 3%

28. THREE PATTERNS OF
RETINOBLASTOMA-
 1. ENDOPHYTIC - into the vitreous cavity
 2. EXOPHYTIC - Into the subretinal space, retinal
detachment with retinal vessels seen over the
tumour
 3. DIFFUSE INFILTRATING - Diffusely involving
the retina, seen in older children

29. DIAGNOSIS
 1. CLINICAL EVALUATION INCLUDING DILATED
FUNDUS EXAMINATION
 2. USG B Scan
 3. CT scan
 4 . MRI
 5 . HISTOPATHOLOGY
 6. BONE MARROW AND CSF EXAM. – for
malignant cells

30. INTERNATIONAL CLASSIFICATION
OF RETINOBLASTOMA
 GROUP A - Small tumour, Rb < 3 mm
 GROUP B - Large tumour , Rb > 3 mm
 GROUP C - Focal seeds, subretinal / vitreous/ both < 3
mm from Rb
 GROUP D - Diffuse seeds , subretinal / vitreous / both >
3 mm from Rb
 GROUP E - Extensive retinoblastoma, > 50% globe /
neovascular granuloma

31. INTERNATIONAL STAGING
 STAGE 0 - No Enucleation
 STAGE 1 - Enucleation
 STAGE 2 - Enucleation with microscopic residual
tumour
 STAGE 3 -overt orbital / lymph node extension
 STAGE 4 - Metastasis, hematogenous/ CNS extension

32. MANAGEMENT – CURRENT
PROTOCOL
 GROUP A to C - Cryotherapy
 - laser photocoagulation
 - transpupillary thermotherapy
 - plaque brachytherapy
 - external beam radiotherapy
 - standard 6 cycle chemoreduction
 GROUP D - Enucleation
 - high dose chemotherapy
 GROUP E - enucleation
 - histopathology evaluation for high risk

33. CHEMOREDUCTION REGIMEN
AND DOSES
 DAY 1 : Vincristine + Etoposide + Carboplatin
 DAY 2 : Etoposide
 STANDARD DOSE: (3 weekly , 6 cycles) vincristine
1.5mg/meter sq. , Etoposide 150 mg / meter sq. ,
Carboplatin 560 mg/ meter sq.
HIGH DOSE : Vincristine 0.025 mg/kg , Etoposide 12
mg/kg , Carboplatin 28 mg/kg

34. Differential Diagnosis
1) Congenital cataract
2) Persistent anterior fetal vasculature
3) Coats disease
4) Retinopathy of prematurity
5) Toxocariasis
6) Uveitis
7) Retinal dysplasia
8) Incontinentia pigmenti
9) Retinoma
10) Retinal astrocytoma

35. Differential Diagnosis
Coats disease : unilateral, more common in boys,
present later than retinoblastoma
Retinopathy of prematurity:
-history of prematurity and low birth weight .
TOXOCARIASIS: chronic toxocara endophthalmitis
may cause a cyclitic membrane and a white pupil
UVEITIS: may mimic diffuse infiltrating type of
retinoblastoma seen in older children

36. Differential Diagnosis
Retinal dysplasia: congenital pink or white
retrolental membrane in a microphthalmic eye
with a shallow anterior chamber and elongated
ciliary process.
Incontinentia pigmenti: rare X-linked dominant
disorder affecting girls . About 1/3rd of children develop
cicatricial retinal detachment in 1st year of life which
may cause leucokoria

37. Differential Diagnosis
Ocular Pannus:Blood vessels growing into cornea often secondry
to chronic contact lens wear, blephritis, herpes keratitis,
phlyctenular keratitis, trauma and trachoma.
- Usually at level of bowman membrane with minimal or no
elevation.
Melanoma: Second m.c after conjunctival SCC.
- 2% of ocular malignancy.
- 5%of ocular melanoma.
- Common in fair >40Yr individual.
- Nodular brown ,well vascularised mass at limbus.
- Invasion of atypical melanocyte in epithelial connective tissue.

38. Differential Diagnosis
Retinoma: benign variant of retinoblastoma , smooth ,
dome-shaped mass, slowly involuting spontaneously to
a calcified mass and chorioretinal atrophy. Rarely
transform into rapidly growing retinoblastoma
Retinal astrocytoma: may be multifocal and bilateral

39. Prognosis and survival
 Prognosis: bad
 5 year survival in intraocular RB- >90%
 extraocular RB- <10 %

40. Before and after

41. Thank You