Table 2.
High frequencies of periocular and ocular pathologies in Xeroderma pigmentosum patients.
| Patientsa # (%) | Kraemer lit review, 1987 # (%) | Goyal retrospective study, 1994 # (%) | Anttinen prospective study, 1998 # (%) | Alfawaz, case series, 2011 # (%) | ||
|---|---|---|---|---|---|---|
| Ocular Abnormalities | Present | 79 (91%) | 328 (40%) | 10 (100%) | 11(85) | |
| Absent | 8 (9%) | 9 (1%) | 0 | 2(15%) | ||
| Not stated | - | 493 (59%) | - | - | 27 j | |
|
| ||||||
| Lids and Lashes | Ectropion b,c | 22 (25%) | 3 (70%) | 8 (30%) n | ||
| Entropion | 2 (2%) | |||||
| Lagophthalmos | 9 (10%) | |||||
| Eyelid abnormalities | - | 135 (16%) | 6 (46%) | 23 (85%)k | ||
| Blepharitis | 20 (23%) | |||||
| Lid Pigmentationd,e,e | 9 (10%) | 10 (100%) | 12 (44%) | |||
| Lid Keratinizationf | 11 (13%) | |||||
|
| ||||||
| Ocular Surface | Conjunctivitis | 44 (51%) | 149 (18%) | 4 (40%)h | 7(54%) | 8 (30%)l |
| Conjunctival Melanosis | 17 (20%) | |||||
| Pannus | 38 (44%) | |||||
| Pterygium | 27 (31%) | 4 (40%) | 9 (69%) | 8 (30%) | ||
| Corneal scarringf | 23 (26%) | 4 (40%)i | ||||
| Corneal abnormalities | - | 141 (17%) | 5(38%) | 18 (66%)m | ||
| Reports Tearing | 10 (11%) | |||||
| Ocular Surface Cancer | 9 (10%) | 73 (9%) | 2 (20%) | 7 (26%) | ||
|
| ||||||
| Other | Cataracts | 12 (14%) | ||||
| Reports Photophobia | 31 (36%) | 178 (21%) | 5 (50%) | 18 (67%) | ||
| Dry Eyeg | 33 (38%) | |||||
A patient may have more than one type of abnormality.
Non-burning patients (15 pts, 47%) experienced a significantly higher rate of ectropion than burning phenotype patients (7 pts, 14%; p < 0.05).
African, African American, Native American, First Nations, Indian and/or Hispanic patients (6 pts, 27%) experience ectropion at a greater rate that Non-Hispanic White patients (3 pts, 5%; p < 0.05).
Patients of the non-burning phenotype (12 pts, 38%) experienced melanosis at a greater rate than burning phenotype patients (5 pts, 10%; p < 0.05).
African, African American, Native American, First Nations, Indian and/or Hispanic patients also experience melanosis at greater rate than Non-Hispanic White (9 pts, 41%; p < 0.05).
Patients with corneal scarring were more likely to also have lid keratinization (odds ratio = 9.18).
Dry eye was indicated if the patient reported symptoms of dry eye and was currently using artificial tears and/or had Schirmer’s baseline aqueous tear production with anesthesia test values that were borderline (≥6 mm to ≤10 mm/5 min) or abnormal (≤5 mm/5 min).
reported as conjunctival congestion or pigmentation.
reported as corneal opacity with vascularisation.
it was not indicated if there were any patients free of ocular abnormalities.
atrophic skin changes.
number of patients with conjunctival congestion or pigmentation.
opacity 18 patients, 9 superficial punctate keratitis, 4 ulcer, or 2 perforation.
number of ectropian or entropian combined.