Table 1.
Ocular findings and symptoms associating with the identified mutation.
| XPV HOM (N = 14) | XPV HET (N = 4) | XPC (N = 3) | Total (N = 21) | p | |
|---|---|---|---|---|---|
| Description | |||||
| Males | 10 (71.4) | 2 (50.0) | 1 (33.3) | 13 | 0.619 |
|
| |||||
| Symptoms | |||||
| Burning | 10 (71.4) | 2 (50.0) | 3 (100.0) | 15 | 0.524 |
| Tearing | 8 (57.1) | 1 (25.0) | 3 (100.0) | 12 | 0.476 |
| Photophobia | 6 (42.9) | 2 (50.0) | 2 (66.7) | 10 | 0.905 |
| Itching | 8 (57.1) | 1 (25.0) | 1 (33.3) | 10 | 0.762 |
| Foreign body sensation | 8 (57.1) | 0 (0.0) | 1 (33.3) | 9 | 0.238 |
| Ocular pain | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 | NA |
|
| |||||
| Signals | |||||
| Corneoconjunctival tumors | 4 (28.6) | 1 (25.0) | 1 (33.3) | 6 | 1.000 |
| Eyelid tumor | 2 (14.3) | 0 (0.0) | 2 (66.7) | 4 | 0.048 |
|
| |||||
| Low visual acuity | |||||
| Yes | 3 (60,0) | 0 (0,0) | 2 (40,0) | 5 | 0,190 |
| No (better than 20/40) | 11 (68,8) | 4 (25,0) | 1 (6,3) | 16 | |
| Blepharitis | 13 (92.9) | 3 (75.0) | 3 (100.0) | 19 | 0.429 |
| Border irregularity | 5 (35.7) | 3 (75.0) | 3 (100.0) | 11 | 0.190 |
| Ectropion | 4 (28.6) | 1 (25.0) | 2 (66.7) | 7 | 0.762 |
| Entropion | 1 (7.1) | 0 (0.0) | 0 (0.0) | 1 | 1.000 |
| Punctate keratopathy | 11 (78.6) | 2 (50.0) | 3 (100.0) | 16 | 0.667 |
| Lagophthalmos | 4 (28.6) | 1 (25.0) | 2 (66.7) | 7 | 0.762 |
| Trichiasis | 1 (7.1) | 1 (25.0) | 0 (0.0) | 2 | 0.429 |
| Madarosis | 4 (28.6) | 0 (0.0) | 1 (33.3) | 5 | 0.571 |
| Tear point change | 3 (21.4) | 0 (0.0) | 2 (66.7) | 5 | 0.190 |
| Conjunctival hyperemia | 10 (71.4) | 4 (100.0) | 2 (66.7) | 16 | 0.714 |
| Pinguecula | 5 (35.7) | 1 (25.0) | 0 (0.0) | 6 | 0.905 |
| Pterygium | 4 (28.6) | 2 (50.0) | 1 (33.3) | 7 | 0.905 |
| Symblepharon | 3 (21.4) | 0 (0.0) | 2 (66.7) | 5 | 0.190 |
| Corneal opacity | 1 (7.1) | 0 (0.0) | 2 (66.7) | 3 | <0.001 |
| Corneal neovascularization | 4 (28.6) | 0 (0.0) | 2 (66.7) | 6 | 0.238 |
| Cataract | 4 (28.6) | 0 (0.0) | 0 (0.0) | 6 | 0.238 |
| Absence | 7 (53,8) | 3 (23,1) | 3 (23,1) | 13 | 0,762 |
| Presence | 4 (100,0) | 0 (0,0) | 0 (0,0) | 4 | |
| IOL | 3 (75,0) | 1 (25,0) | 0 (0,0) | 4 | |
|
| |||||
| Tests | |||||
| BUT | 14 (100.0) | 4 (100.0) | 3 (100.0) | 21 | NA |
| Toluidine blue | 4 (28.6) | 0 (0.0) | 2 (66.7) | 6 | 0.238 |
| Rose bengal | 8 (57.1) | 1 (25.0) | 3 (100.0) | 12 | 0.476 |
| Schirmer | 3 (21.4) | 0 (0.0) | 0 (0.0) | 3 | 1.000 |
NA: not applicable; N: absolute frequency; %: relative frequency; HOM: homozygous; HET: heterozygous; XPV = variant subtype; XPC = subtype C; BUT: break-up time. All frequencies refer to the column. Statistical test used was Fisher–Freeman–Halton test.