Retinoblastoma is
Correct Answer: Autosomal dominant
Description: (Autosomal dominant) (280- Khurana 4th)RETINOBLASTOMA - Most common intraocular tumour of childhood and malignant melanoma of choroid in adults*** Identified as band on the long arm of chromosome 13(13ql4)* Most hereditary cases are multifocal* Inheritance is autosomal dominant and the risk of transmitting the gene mutation is 50%* Leukocoria ox yellowish - while pupillary reflex** (also called as amaurotic cat's eye appearance) is the commonest features* In the presence of calcification it gives the typical "Cottage- cheese " appearance* Calcification occurs in 75% is almost pathognomic of Retinoblastoma* Enucleation is the treatment of choice when* Tumour involves more than half of the retina* Optic nerve is involved* Glucoma is present and anterior chamber is involved* External beam radiation therapy spares vision and the cosmetic use of the globe* Palliative therapy (chemotherapy, surgical debulking of the orbit or orbital exentration and External beam radiotherapy (EBRT) is given in following cases where prognosis for life is dismal in spite of aggressive treatment* Retinoblastom with orbital extension* Retinoblastoma with intracranial extension* Retinoblastoma with distant metastasis
Category:
Ophthalmology
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