retinoblastoma clinical features

1. CLINICAL FEATURES OFCLINICAL FEATURES OF
RETINOBLASTOMARETINOBLASTOMA

2. EPIDEMIOLOGYEPIDEMIOLOGY
• AGE-
1. Within first 3 years of life.
2. Bilateral disease can present earlier (average 12
months).
3. Can occur in older children.
4. 20 cases reported in adults- oldest being 74 years.
5. 3 cases in adult reported from India.

3. FAMILY HISTORY-FAMILY HISTORY-
1. Heritable retinoblastoma accounts for 40%.
2. Familial cases carry a predisposition to non
ocular cancers; most notably
pinealoblastoma ( trilateral
retinoblastoma) and osteosarcoma.
3. Unaffected parents of a child present with
bilateral retinoblastoma with no family
history have a family have a 40% chance
of producing another affected child.

4. EPIDEMIOLOGY-INEPIDEMIOLOGY-IN
INDIAINDIA
• Pediatr Hematol Oncol. 1998 Nov-Dec;15(6):501-8.
Retinoblastoma: problems and perspectives from India.
Sahu S, Banavali SD, Pai SK, Nair CN, Kurkure PA, Motwani SA,
Advani SH.Department of Medical Oncology, Tata Memorial
Hospital, Mumbai, India.
• The epidemiological characteristics of 296 patients with RB
over 8 years were evaluated using hospital records and postal
follow-ups
• Unilateral disease was seen in 61.8% of patients.
• The overall median age at presentation was 3.5 years (3.5
years for unilateral RB and 1.0 years for bilateral RB).
• The male/female ratio was 1.4:1.
• The median duration of symptomatic disease was 8 months.

5. • Consanguineous marriage was seen in 17% and family history
of RB was noted in 1.7% cases.
• 2% had a history of other malignancy in the family .
• Associated congenital malformation was seen in 10.5% of
cases.
• A second malignancy was seen in 0.67% of cases at a mean
duration of 4.5 years after completion of therapy.
• A predominance of advanced-stage disease (74.5% had
Reese-Ellsworth group IV and V disease) was seen in our series.
Only 43.6% of patients had disease localized to the globe
without any infiltration/invasion.

6. •The study of the effect of birth rank showed a significant
association between sporadic retinoblastoma (bilateral and
unilateral) and late para, indicating that fresh germline
mutations must have taken place in some of the sporadic cases.
•An investigation of the effect of birth rank on familial cases,
obtained from published papers and our own series, showed
that familial retinoblastoma is significantly associated with early
para, suggesting early parental age.
•Thus, the present study shows that a high paternal age may be
associated with sporadic bilateral (sporadic hereditary)
retinoblastoma.
Ophthalmic Epidemiol. 2000 Dec;7(4):285-91.
Parental age in Indian patients with sporadic hereditary retinoblastoma.Sivakumaran TA, Ghose S, Kumar H, A S, Kucheria
K.

7. CLINICALCLINICAL
FEATURESFEATURES
• LEUKOCORIA-
1. 56% pts present with leukocoria.
2. Leukocoria correlates with the presence of
advanced disease.
3. Parents frequently notice leukocoria at night or in
darkened room.

8. • STRABISMUS-
1.24% of pts presents with strabismus.
2.Always due to result of either a tumor or of
subretinal fluid associated with a tumor in
the macula.
3. Strabismus within first 6 months of life should
arouse the suspicion of retinoblastoma.
• POOR VISION

9. • FAMILY HISTORY
• PROPTOSIS- in neglected cases.
• ORBITAL INFLAMMATION- can mimic orbital or
preseptal cellulitis.
• SECONDARY GLAUCOMA
• POSTERIOR UVEITIS
• SPONTANEOUS HYPHEMA
• VITREOUS HEMORRHAGE
• METASTATIC DISEASE
• RAISED ICT

10. ATYPICAL PRESENTATIONSATYPICAL PRESENTATIONS
• J Pediatr Ophthalmol Strabismus. 2004 Jan-
Feb;41(1):18-24.
Atypical presentations of retinoblastoma.
Balasubramanya R, Pushker N, Bajaj MS, Ghose S,
Kashyap S, Rani A.Oculoplastic and Paediatric
Ophthalmology Services, Dr. Rajendra Prasad
Centre for Ophthalmic Sciences, All India Institute of
Medical Sciences, New Delhi, India.
• A total of 392 cases of retinoblastoma were
reviewed; 72.2% of the patients had leukocoria, 13%
had proptosis, 10% had strabismus, 1.5% were
asymptomatic (detected on screening), and 3.3%
had atypical presentations.

11. • 14 atypical presentations found
• Endophthalmitis (0.76%)
• Secondary glaucoma (0.76%)
• Uveitis (0.5%)
• Corneal edema (0.5%)
• Phthisis bulbi (0.5%)
• Orbital cellulitis (0.5%)
• Cataract (0.25%)

12. • Pseudohypopyon (0.25%)
• Iris nodules (0.25%)
• Hyphema (0.25%)
• Iris neovascularization (0.25%)
• Microphthalmos (0.25%)
• Exposure keratopathy (0.25%)
• Corneal blood staining (0.25%)

13. • All of the patients had Reese-Ellsworth grade V
disease.
• On histopathology, invasion of neighboring
structures was seen in 10 patients.
• All patients underwent enucleation with adjuvant
radiotherapy, chemotherapy, or both.

14. • Ophthalmology. 1991 Mar;98(3):395-9.
Retinoblastoma in older children.
Shields CL, Shields JA, Shah P.
Ocular Oncology Service, Wills Eye Hospital, Jefferson
Medical College
• Review of 400 consecutive patients with retinoblastoma
• 34 (8.5%) patients were older than 5 years of age at the
time of initial diagnosis. The tumor was active in 26 (76%)
cases and inactive (retinoma) in 8 (24%).
• At the time of diagnosis, their median age was 6 years
and the oldest was 18 years

15. • In 20 (77%) cases, the patient volunteered
symptoms that prompted the eye
examination; the presenting symptoms
included
• Leukocoria (9 cases).
• Decreased vision (9 cases).
• Strabismus (4 cases).
• Pain (1 case)
• Floaters (1 case)
• No symptoms (2 cases).
• All of the 26 patients (100%) had unilateral
sporadic retinoblastoma.

16. • Five patients (19%) had prior vitrectomy for
presumed vitreous hemorrhage or endophthalmitis
while the retinoblastoma was unsuspected
clinically,
• One patient (4%) had cryotherapy for presumed
Coats disease.
• One (4%) was observed for 7 months for presumed
vitreous hemorrhage.
• The clinician should seriously consider the possibility
of retinoblastoma in children who present with signs
of unexplained vitreous hemorrhage or
endophthalmitis, even if they are older than 5 years
of age.

17. RETINOBLASTOMA INRETINOBLASTOMA IN
ADULTSADULTS
• Surv Ophthalmol. 2000 Mar-Apr;44(5):409-14.
Retinoblastoma in adults. Report of three cases and review of the
literature.
Biswas J, Mani B, Shanmugam MP, Patwardhan D, Kumar KS,
Badrinath SS.
Medical Research Foundation, Chennai, India.
• 20 cases of retinoblastoma in adults (older than 20 years) have been
reported in the literature.
• Oldest being 74 years.
• All 3 cases from India presnted with decreased vision with white
fundal mass.
• D/D of an amelanotic mass lesion in adults are- amelanotic
melanoma, lymphoma, metastatic carcinoma, astrocytoma,
leukemia, panophthalmitis, endophthalmitis, inflammatory disease of
retina, retinoma.

18. D/D OFD/D OF
LEUKOCORIALEUKOCORIA
• UNILATERAL-
• Toxocara endophthalmitis-
• Usual presentation between 2-9 yrs.
• Signs of inflammation in anterior segment and
vitreous are present.
• Intraocular pressure usually low.
• ELISA may be diagnostic.

19. Persistent Hyperplastic PrimaryPersistent Hyperplastic Primary
VitreousVitreous
• Persistent Hyperplastic
Primary Vitreous-
1.Associated with
microphthalmos.
2.Lens may be
cataractous.
3.Elongated ciliary
processes are visible
through dilated pupil.

20. COATCOAT’’S DISEASES DISEASE
• COAT’S DISEASE-
1.Older boys (4-10 yrs)
2.Large areas retinal or
subretinal exudates
with cholesterol
crystals.
3.Dilated and tortuous
retinal vessels at
posterior pole.
4.Exudative detachment
as a retro-lental mass.

21. • BILATERAL-
• Retinopathy of prematurity-
1.History of prematurity and low birth weight.
2.Bilateral in 100% of cases.
3.Presence tractional detachment.
4. Intraocular pressure is normal.

22. • UNILATERAL/ BILATERAL-
• Congenital cataract-
1.Unilateral/Bilateral.
2.Opacity in the lens clearly indicates the presence of
cataract.
3.Cataract does not exclude other causes of
leukocoria.

23. • Retinal dysplasia-
1.Congenital pink or white retrolental
membrane in a microphthalmic eye.
2. Shallow anterior chamber.
3. Elongated ciliary process.
4.Unilateral cases not associated with systemic
causes.
5. Bilateral involvement may have Norrie
disease or Warburg, Patau and Edward
syndrome.

24. RARE D/DRARE D/D
• Incontinentia pigmenti-
1.Rare X-linked dominant disorder affecting
girls.
2.Characterized by vesicobullous dermatitis on
the trunk and extremities.
3.Malformations of teeth,hair,nails,bones and
CNS may also be present.
4. May have cicatrical RD which may cause
leukocoria,

25. • Retinocytoma-
1. Benign variant of retinoblastoma.
2. Calcified mass with RPE alteration and
chorioretinal atrophy.
3. Confirmed by histopathology.

26. • Retinal Astrocytoma-
1.Benign non vision threatening tumor.
2. Most commonly seen in patients with tuberous
sclerosis.
3. Semi translucent nodule or a white relatively flat,well
circumscribed plaque.
4. It may become more solid and white.

27. • Ann Ophthalmol. 1984 Jul;16(7):679-80, 684.
Infantile leukocoria caused by posterior lenticonus.
Fett D, Paez JH, Isenberg S.
Posterior lenticonus--a bulging of the posterior
capsule and cortex--is an acquired lens
abnormality, which becomes increasingly opaque.
We report an unusual case of bilateral posterior
lenticonus in an infant, who initially presented with
leukocoria and was referred with a diagnosis of
retinoblastoma. Careful physical examination and
ultrasound analysis were important in the diagnosis.
Ultrasound also aids the surgeon in planning
therapy. Posterior lenticonus should be considered
in the differential diagnosis of retinoblastoma.

28. • J Pediatr Ophthalmol Strabismus. 1988 Jul-Aug;25(4):196-7.
Ocular trauma following amniocentesis as the cause of
leukocoria.
Admoni MM, BenEzra D.
Department of Ophthalmology, Hadassah University Hospital,
Jerusalem, Israel.
Among the various causes of leukocoria in a newborn,
intrauterine ocular trauma following amniocentesis is not
included. We describe a three-day-old girl whose leukocoria
of the left eye resulted from traction retinal detachment,
caused by the perforation of the globe during diagnostic
amniocentesis

29. • J AAPOS. 2001 Dec;5(6):395-7.
Malignant teratoid medulloepithelioma: clinical-echographic-
histopathologic correlation.
Lloyd WC 3rd, O'Hara M.
Ophthalmology Division, Department of Surgery, F. Edward
Hebert School of Medicine, Uniformed Services University of
the Health Sciences, Bethesda, Maryland, USA.
Medulloepithelioma is a rare congenital intraocular neoplasm.
The authors describe a case involving a 6-year-old girl who
presented with leukocoria and an inflamed red eye. The
important clinical and histopathologic features of this
condition are reviewed in correlation with echographic
findings.

30. • Arch Ophthalmol. 2003 Jan;121(1):119-22.
An unusual case of leukocoria: heterotopic brain arising from
the retina.
Paysse EA, Coats D, Chevez-Barrios P.
Baylor College of Medicine, Texas Children's Hospital

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