Table 5.
Ocular phenotype of patients with ocular angiomatosis in each of 3 genotypic mutation classes.
| Phenotypic category | Genotype mutation class |
||||
|---|---|---|---|---|---|
| Amino-Acid Substitution | Protein Truncation | Complete Deletion | Total patients | ||
| Laterality of angiomatosis | With only 1 eye involved | 64 (40.3) | 59 (41.6) | 4 (44.4) | 310 |
| With both eyes involved | 95 (59.8) | 83 (58.5) | 5 (55.6) | ||
| Presence of severe ocular involvement | No severe ocular involvement in either eye | 128(80.5) | 109 (76.8) | 9(100) | 310 |
| At least one eye with severe ocular involvement | 31(19.5) | 33 (23.2) | 0(0) | ||
| Location of retinal angioma | No optic nerve involvement in either eye | 120 (75.5) | 122 (85.9) | 7(77.8) | 310 |
| At least one eye with documented optic nerve involvement | 39 (24.5) | 20 (14.1) | 2 (22.2) | ||
| Number of peripheral retinal hemangioblastomas (RCH) | Fewer than 3 RCHs in either eye | 73 (54.1) | 77 (60.6) | 3 (42.9) | 269 |
| At least 3 RCHs in either eye | 62 (45.9) | 50 (39.4) | 4 (57.1) | ||
| Fewer than 5 RCHs in either eye | 103 (76.3) | 99 (78.0) | 7 (100) | 269 | |
| At least 5 RCHs in either eye | 32 (23.7) | 28 (22.0) | 0 (0) | ||
| Extent of peripheral retina involvement | < 1 quadrant of peripheral retinal involvement in either eye | 92 (68.2) | 88 (69.3) | 5 (71.4) | 269 |
| > 1 quadrant of peripheral retinal involvement in either eye | 43 (31.8) | 39 (30.7) | 2 (28.6) | ||