Clinical and Molecular Features Associated with Cystic Visceral Lesions in Von Hippel-Lindau Disease

Table 1: Disease Manifestations at Presentation and During Follow-Up for Patients with Cystic Visceral Lesions

ID	Mutation	Lesions at Presentation				New Lesions During Follow-Up
ID	Mutation	Cystic Visceral	Other Visceral	CNS	Ocular	Cystic Visceral	Other Visceral	CNS	Ocular
1	MissenseExon 1	Epididymal cystadenoma				Renal cyst			2 x Right peripheral RCH
2	Missense (variant)	Renal cyst					Bilateral PCC
3	Deletion Exons 1 - 3			Spinal cord HGB		Pancreatic cyst		Cerebellar HGB
4	Deletion Exon 3			Spinal cord HGB		Renal cyst		Cerebellar HGB
5	Deletion Exons 1-3			Cerebellar HGB		Pancreatic cyst Renal cyst
6	Deletion Exon 2				Right peripheral RCH	Pancreatic cyst		Spinal cord HGB

HGB, haemangioblastoma; PCC, phaeochromocytoma; RCH, retinal capillary haemangioma.