OCULAR PATHOLOGY CASE CONFERENCE
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OCULAR PATHOLOGY OCULAR PATHOLOGY CASE CONFERENCECASE CONFERENCE
Chirag Patel, M.D. (PGY-2)Chirag Patel, M.D. (PGY-2)
Hilary Nikols, M.D. (PGY-3)Hilary Nikols, M.D. (PGY-3)
Mark Becher, M.D.Mark Becher, M.D.
Louise Mawn, M.D.Louise Mawn, M.D.
October 20, 2008October 20, 2008
Case 6Case 6: vascular malformation, : vascular malformation, possibly arteriovenouspossibly arteriovenous
masson
Case 6Case 6: vascular malformation, : vascular malformation, possibly arteriovenouspossibly arteriovenous
masson
Case 6Case 6: vascular malformation, : vascular malformation, possibly arteriovenouspossibly arteriovenous
masson
Case 8Case 8: Retinoblastoma: Retinoblastoma
Deletion of both RB1 tumor suppressor genesDeletion of both RB1 tumor suppressor genesHereditary form 40%Hereditary form 40% Germ cell line mutation; loss of one gene at Germ cell line mutation; loss of one gene at
embryogenesisembryogenesis Usually presents bilaterally and earlyUsually presents bilaterally and early Risk of second malignancyRisk of second malignancy
Non-hereditary form 60%Non-hereditary form 60% Somatic mutation at level of retinal cellSomatic mutation at level of retinal cell Usually unilateral and presents later in childhoodUsually unilateral and presents later in childhood