Brig Amer Yaqub MCPS, FCPS, FRCSEd

WHITE PUPIL

Causes of White Pupil

DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL Cataract

Causes of White Pupil

DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL Retinoblastoma

Causes of White Pupil

DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL Toxocariasis

Causes of White Pupil

DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL Coat´s disease

Causes of White Pupil

DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL Retinopathy of Prematurity

Causes of White Pupil

DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL Retinal detachment

Causes of White Pupil

DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL Coloboma

Causes of White Pupil

DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL Retinal dysplasia

Causes of White Pupil

DIFFERENTIAL DIAGNOSIS OF WHITE PUPIL Norrie´s disease

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%

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

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

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

GENETICS

Heritable (germline) accounts for 40% of cases One allele of all body cells RB1 (a tumour suppressor gene) is mutated in 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

RETINOBLASTOMA

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

Presentations of Retinoblastoma

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Leukocoria - 60%

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Strabismus - 20%

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Secondary glaucoma

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Anterior segment invasion

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Orbital inflammation

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Orbital invasion

Advanced Endophytic Retinoblastoma

Friable white mass Cottage cheese appearance Fine surface blood vessels Vitreous seedings

Exophytic Retinoblastoma

Multilobulated white mass with overlying retinal detachment May be difficult to visualize through deep detachment

Ultrasound

CT diagnosis of retinoblastoma

Calcification

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Optic nerve involvement Orbital and CNS extension Pinealoblastoma

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

Poor Prognostic Factors

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

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

Photocoagulation (Laser Therapy) Cryotherapy (Freezing Treatment) Chemotherapy Enucleation

Treatment

Advantages Disadvantages The laser beam focuses on the cancerous tumor, cuts off blood supply to the tumor and shrinks it.

The tumor is frozen and thawed several times by a cold gas and this causes the tumor to shrink. Depending on the size of the tumor, chemotherapy may be needed for larger tumors that cannot be shrunk just by laser.

The tumor will leave a pigmented scar and the eye lid will swell for a couple of days.

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.

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.

Treatment

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

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.