Advances in gene testing have enabled a high rate of mutation detection, particularly when tumour tissue is genotyped. Genetic analysis is integral to the management of retinoblastoma patients allowing enhanced follow-up care, avoidance of unnecessary examinations, family screening, counselling and reproductive planning, with early tumour detection in predisposed individuals.
RB can rarely present in late childhood. Clinicians should consider RB as a diagnosis when faced with a patient with unexplained exudative retinal detachment.
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