Research Article
Xeroderma Pigmentosum: Ocular Findings in an Isolated Brazilian Group with an Identified Genetic Cluster
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) | |
| | 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 |
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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.
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