White pupil

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White pupil

• Brig Amer Yaqub
• MCPS, FCPS, FRCSEd

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Causes of White Pupil

• DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL
• Cataract

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Causes of White Pupil

• DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL
• Retinoblastoma

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Causes of White Pupil

• DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL
• Toxocariasis

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Causes of White Pupil

• DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL
• Coats disease

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Causes of White Pupil

• DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL
• Retinopathy of Prematurity

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Causes of White Pupil

• DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL
• Retinal detachment

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Causes of White Pupil

• DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL
• Coloboma

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Causes of White Pupil

• DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL
• Retinal dysplasia

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Causes of White Pupil

• DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL
• Norries disease

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Retinoblastoma

• Retinoblastoma is the most common intraocular
  tumor of childhood, accounting for 1 of
  childhood cancer deaths in the United States and
  5 of blindness in children
• The incidence is 1 in 15,000 to 1 in 20,000 live
  births
• Overall mortality from retinoblastoma decreased
  from 95 a century ago. With modern diagnostic
  and therapeutic advances, the mortality rate from
  metastatic or recurrent retinoblastoma has been
  as low as 5

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Retinoblastoma

• The disease is bilateral in approximately 40 of
  cases
• The average age at diagnosis is 18 months and 90
  of patients are diagnosed before the age of 3
  years

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Retinoblastoma

• Less than 10 of retinoblastoma have a family
  history of the disorder, 90 of cases are
  sporadic
• Of the sporadic cases, the responsible mutation
  is in a germ cell in 25 of cases and in a
  somatic cell in 75 of cases

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GENETICS

• Located chromosome- 13q14 
• May be heritable or non-heritable
• Retinoblastoma results from malignant
  transformation of primitive retinal cells before
  final differentiation
• As these cells disappear in the first few years
  of life, the tumour is seldom seen after 3 years
  of age

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GENETICS

• Heritable (germline) accounts for 40 of cases
• One allele of RB1 (a tumour suppressor gene) is
  mutated in all body cells
• The mutation is transmitted in 50 but because of
  incomplete penetrance only 40 of offspring will
  be affected
• If a child has heritable retinoblastoma, the risk
  to siblings is 2 if the parents are healthy, and
  40 if a parent is affected
• About 15 of patients with hereditary
  retinoblastoma manifest unilateral involvement
• Non-heritable (somatic) accounts for 60 of cases
• Unilateral, not transmissible and does not
  predispose the patient to second non-ocular
  cancers

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RETINOBLASTOMA

• CLINICAL MANIFESTATIONS
• Leukocoria (60)
• Strabismus (20)
• OTHER- Uveitis, Orbital cellulitis, Hyphaema,
  Heterochromia, Glaucoma, Buphthalmos

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Presentations of Retinoblastoma

• Leukocoria - 60

• Strabismus - 20

• Secondary glaucoma

• Anterior segment invasion

• Orbital invasion

• Orbital inflammation

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Advanced Endophytic Retinoblastoma
Friable white mass
Cottage cheese appearance
Fine surface blood vessels
Vitreous seedings
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Exophytic Retinoblastoma
May be difficult to visualize through deep
detachment
Multilobulated white mass with overlying retinal
detachment
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Ultrasound
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CT diagnosis of retinoblastoma
Calcification

• Optic nerve involvement

• Orbital and CNS extension

• Pinealoblastoma

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Diagnosis

• Biopsies are not usually done to diagnose
  retinoblastoma because
• It can be recognized with great accuracy just by
  examination
• A biopsy cannot be done easily without harming
  the eye
• risks spreading the cancer cells

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Poor Prognostic Factors

• Optic nerve involvement
• Choroidal invasion
• Large tumour
• Anterior location
• Poor cellular differentiation
• Older children

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MANAGEMENT

• Genetic Counselling
• Treatment of small (3 mm diameter) tumours
• Photocoagulation
• Cryotherapy
• Chemotherapy
• Medium sized (upto 12 mm) tumours
• Chemotherapy
• External beam radiation
• Large tumours
• Chemotherapy
• Enucleation

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Treatment
Advantages Disadvantages
Photocoagulation (Laser Therapy) The laser beam focuses on the cancerous tumor, cuts off blood supply to the tumor and shrinks it. Depending on the size of the tumor, chemotherapy may be needed for larger tumors that cannot be shrunk just by laser.
Cryotherapy (Freezing Treatment) The tumor is frozen and thawed several times by a cold gas and this causes the tumor to shrink. The tumor will leave a pigmented scar and the eye lid will swell for a couple of days.
Chemotherapy After the extensive cycles of chemo, the cancer cells are reduced, thereby, shrinking of the tumor. There are several cycles, and there is an IV port necessary to draw blood, and inject the drugs.
Enucleation This is removal of the eyeball and the tumor is extracted when no other option is possible due to the size of the tumor. The whole eyeball is removed with the attendant problems of anophthalmic socket.
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Treatment

• Extraocular extension
• Chemotherapy
• Radiotherapy
• Metastatic Disease
• High dose chemotherapy
• Intra-thecal chemotherapy
• Total body radiotherapy

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Follow-up

• Heritable Retinoblastoma patients can develop
  recurrences and need to be followed up regularly
• Examine the patients every 6 months till the age
  of 5 years and then annually till the age of 10
  years.