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Learn the early signs of retinoblastoma in children. Discover symptoms, diagnosis methods, and treatment options for this common pediatric eye cancer.
The retinoblastoma susceptibility gene (RB1), located on sub-band 13q14.2, is a tumor-suppressor gene with a regulatory role in the cell division cycle.
Retinoblastoma is the most common intraocular malignancy affecting children. The retinoblastoma susceptibility gene (RB1), located on sub-band 13q14.2, is a tumor-suppressor gene with a regulatory role in the cell division cycle.
Patients diagnosed with retinoblastoma are classified based on whether the mutation is germline or somatic. Bilateral presentation is usually associated with germline mutations, while most unilateral cases involve somatic mutations.
Dr Lenin Lousigam, General Ophthalmologist, Dr Agarwals Eye Hospital shares all you need to know:
Leukocoria (whitening of the red reflex) is the most common presentation. Any infant or child with an abnormal red reflex should be promptly referred to an ophthalmologist experienced in pediatric eye examinations.
The differential diagnosis of retinoblastoma includes cataract, Coats’ disease, retinopathy of prematurity, persistent primary hyperplastic vitreous (PHPV), choroidal coloboma, toxocariasis, vitreous hemorrhage, myelinated retinal nerve fibers, and other retinal tumors such as astrocytic hamartoma.
Examination
Fundus examination: Reveals one or more nodular, white, or cream-colored retinal masses.
Diagnostic procedures: A- and B-scan ultrasound are recommended. CT scans may determine tumor size and calcium deposits but are generally avoided if MRI is available.
Treatment Options
Medical treatment of intraocular retinoblastoma:
Intravenous chemotherapy (IVC) or chemoreduction with focal consolidation
Intra-arterial chemotherapy
Intravitreal chemotherapy (IVitC) combined with double or triple freeze-thaw therapy
Radiation therapy:
External beam radiation and plaque brachytherapy, considered secondary options following chemotherapy
Surgical treatment:
Enucleation is necessary for eyes with a large tumor burden (Group E) or cases that progress despite conservative treatment
Swati Chaturvedi, a seasoned media and journalism aficionado with over 10 years of expertise, is not just a storyteller; she’s a weaver of wit and wisdom in the digital landscape. As a key figure in News18 Engl…Read More
Swati Chaturvedi, a seasoned media and journalism aficionado with over 10 years of expertise, is not just a storyteller; she’s a weaver of wit and wisdom in the digital landscape. As a key figure in News18 Engl… Read More
September 16, 2025, 19:12 IST
