Tumor suppressor genes in ophthalmology

Tumor suppressor genes ha have a diversity of functions, but they have in c ommon the property of inhibiting neoplastic transformation. When they becom e inactivated, a constraint is removed that allows cells to grow inappropri ately. Mutations in these genes are now thought to be the initiating events in most cancers. The first tumor suppressor gene was discovered through it s role in retinoblastoma, and many other tumor suppressor genes also have i mportant ophthalmic manifestations. The first group of tumor suppressor gen es to be discussed are those involved in retinoblastoma and uveal melanoma. These are among the most frequently mutated genes in human cancer and are key regulators of growth and homeostasis. The second group of genes is asso ciated with specific hereditary tumor syndromes with ophthalmic manifestati ons These genes function in a variety of molecular pathways and are associa ted with neoplastic and non-neoplastic abnormalities in restricted tissue d istributions. Research on tumor suppressor genes continues to shed light on the molecular pathophysiology of ophthalmic tumors and will increasingly y ield diagnostic and therapeutic applications. (C) 1999 by Elsevier Science Inc. All rights reserved.