Miguel Materin, MD, Director of Ocular Oncology Section, Yale Eye Center, discusses retinoblastoma and the importance of germline vs somatic mutations in predicting prognosis.

Summary:
Retinoblastoma can be classified into 2 types of mutations: germline or somatic. Somatic mutations are only present in the retina whereas germline mutations are present in all body cells. Retinoblastoma now has a survival rate of 95-98% if treated.

References and Resources:
Nichols KE, Walther S, Chao E, Shields C, Ganguly A. Recent advances in retinoblastoma genetic research. Curr Opin Ophthalmol. 2009 Jul 7.
Cozza R, De Ioris MA, Ilari I, Devito R, Fidani P, De Sio L, Demelas F, Romanzo A, Donfrancesco A. Metastatic retinoblastoma: 20-year single institution experience. Br J Ophthalmol. 2009 Jun 24.

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