retinoblastoom
Retinoblastoom is a common misspelling of retinoblastoma, a malignant tumor of the retina that most often affects young children. In medical contexts, the correct term is retinoblastoma.
Causes and genetics: Most cases arise from inactivation of the RB1 tumor suppressor gene on chromosome 13q14.
Clinical features: The most frequent presenting signs are leukocoria (a white reflex in one or both eyes)
Diagnosis: Diagnosis is based on an ophthalmologic examination, supported by imaging. B-scan ultrasound can reveal intraocular
Treatment and prognosis: Management depends on disease extent and laterality. Unilateral, advanced disease may require enucleation.
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