Table 4.

Ocular phenotypes of VHL patients with ocular angiomatosis in the 3 genotypic categories

Phenotypic category	Number of patients in each phenotypic subcategory (percentage in parentheses)	Definitions for each phenotypic category
Laterality of angiomatosis	With only 1 eye involved = 127 (41.0)	History or evidence of retinal hemangioblastomas
	With both eyes involved = 183 (59.0)
Presence of severe ocular involvement	Without severe ocular involvement in either eye = 246 (79.3)	Eyes that have been enucleated or structurally disrupted due to complications from ocular angiomatosis such that a fundus view was not possible were judged as having “severe ocular involvement”
	At least one eye with severe ocular involvement = 64 (20.7)
Location of retinal hemangioblastomas	Without optic nerve involvement in either eye = 249 (80.3)	“Optic nerve involvement” was judged to be present when 1 or more retinal hemangioblastomas were located in the juxtapapillary region (located either directly on the optic nerve or less than one disc diameter from the optic nerve).
	At least one eye with documented optic nerve involvement = 61 (19.7)
Number of peripheral retinal hemangioblastomas (RCH)	Fewer than 3 RCHs in either eye = 153 (56.9)	For eyes with RCHs located in the periphery, the individual RCHs were counted. Peripheral RCHs referred to those located beyond the vascular arcades and twice the foveal disk distance from the optic nerve.
	At least 3 RCHs in either eye = 116 (43.1)
	At least 5 RCHs in either eye = 60 (22.3)
Extent of peripheral retina involvement	< 1 quadrant of peripheral retinal involvement in either eye = 185 (68.8)	For eyes with RCHs located in the periphery, the extent of peripheral retina involved by RCHs was estimated.
	> 1 quadrant of peripheral retinal involvement in either eye = 84 (31.2)