Demographic and clinical parameters for the aniridia patients examined
| Mutation type | Subject no | Age (year) | Sex | AAK grade | OSDI score | Blink rate | Schirmer (mm) | TFBUT (s) | OSS | OPI | IOP (mm Hg) | CNFL (mm/mm2) | Epi phenotype | Partial iris |
| Non-PAX6 coding | 1 | 4 | M | 0 | 9 | 18 | 35 | 12 | 0 | 3.6 | 14 | 12.7 | co | Y |
| 2 | 5 | F | 1 | 14 | 10 | 29.5 | 13 | 0.5 | 2.2 | 22.5 | ||||
| 3 | 10 | F | 0.5 | 18 | 18 | 33.5 | 12 | 1 | 3.6 | 14.5 | 16.0 | co | Y | |
| 4 | 26 | F | 1 | 13 | 16 | 19 | 11 | 0.5 | 2.9 | 22 | 22.0 | co | ||
| 5 | 34 | M | 0.5 | 11 | 20 | 19.5 | 3.5 | 22 | 14.1 | co | Y | |||
| Missense | 6 | 4 | M | 1.5 | 14 | 15 | 35 | 16 | 0 | 4,0 | 14 | 8.6 | mix | |
| 7 | 10 | M | 1.5 | 7 | 17 | 35 | 14.5 | 0 | 4.1 | 14.5 | 17.9 | co | ||
| 8 | 20 | F | 1 | 43 | 25 | 17.5 | 14 | 1 | 5.8 | 19 | 8.2 | co | Y | |
| 9 | 36 | F | 3 | 61 | 24 | 22.5 | 9 | 2.5 | 3.6 | 27 | 0.0 | conj | Y | |
| 10 | 38 | F | 1.5 | 59 | 13 | 2.5 | 3.5 | 4 | 0.8 | 13 | 4.6 | mix | ||
| PTC | 11 (1) | 1 | M | 0 | Y | |||||||||
| 12 (1) | 9 | M | 1 | 10 | 15 | 35 | 11 | 0 | 2.8 | 16 | Y | |||
| 13 | 4 | M | 2 | 0 | 17 | 35 | 6 | 0 | 1.7 | 8 | co | |||
| 14 | 4 | M | 2 | 6 | 18 | 0 | 19.5 | |||||||
| 15 | 6 | F | 2 | 7 | 15 | 35 | 11 | 0 | 2.8 | 24 | ||||
| 16 | 7 | F | 2 | 15 | 19 | 30 | 15 | 1 | 4.8 | 12.5 | 11.3 | mix | ||
| 17 | 8 | M | 1 | 5 | 22 | 24 | 5.5 | 1 | 2.0 | 15.5 | 15.4 | co | Y | |
| 18 | 8 | F | 1.5 | 14 | 15 | 27 | 12.5 | 1 | 3.1 | 17 | ||||
| 19 (2) | 11 | M | 2 | 14 | 22 | 21.5 | 3.5 | 3 | 1.3 | 15.5 | 7.2 | co | ||
| 20 (2) | 12 | M | 2.5 | 11 | 18 | 27 | 5.5 | 3.5 | 1.7 | 13.5 | mix | Y | ||
| 21 (2) | 46 | F | 3.5 | 48 | 17 | 23 | 2 | 34 | 0.0 | conj | ||||
| 22 (3) | 11 | M | 2 | 39 | 22 | 26.5 | 6 | 3.5 | 2.2 | 19 | 0.0 | conj | ||
| 23 (3) | 42 | F | 3.5 | 43 | 21 | 35 | 5 | 4 | 25 | 0.0 | conj | Y | ||
| 24 | 13 | M | 2 | 20 | 18 | 15 | 8 | 2.5 | 2.4 | 14 | 17.8 | co | Y | |
| 25 | 20 | F | 4 | 34 | 24 | 35 | 8 | 3.5 | 3.2 | 12.5 | 0.0 | conj | Y | |
| 26 | 28 | F | 2 | 45 | 18 | 22.5 | 4.5 | 3.5 | 1.4 | 20 | 6.4 | co | ||
| 27 | 28 | F | 3 | 69 | 22 | 11.5 | 2.5 | 4 | 0.9 | 14 | 0.0 | conj | ||
| 28 (4) | 34 | M | 3 | 27 | 28 | 18 | 9 | 2.5 | 4.2 | 19 | 0.0 | conj | Y | |
| 29 (4) | 64 | F | 3 | 45 | 25 | 4 | 2 | 0.0 | conj | |||||
| 30 | 36 | M | 2.5 | 36 | 21 | 26 | 6.5 | 3 | 2.3 | 19.5 | 3.0 | mix | ||
| 31 | 42 | F | 4 | 45 | 25 | 35 | 3.5 | 4.5 | 1.4 | 15.5 | 0.0 | conj | Y | |
| 32 | 46 | F | 1.5 | 8 | 15 | 19 | 9 | 2 | 2.3 | 25 | 13.1 | mix | ||
| 33 | 54 | M | 2 | 6 | 36 | 26.5 | 3 | 4.5 | 1.8 | 35 | 3.4 | mix | ||
| 34 | 57 | M | 2.5 | 57 | 25 | 6 | 6 | 4.5 | 2.5 | 19 | 5.4 | conj | Y | |
| 35 | 16 | F | 3.5 | 41 | 20 | 3 | 2 | 5 | 22 | 0.0 | conj | |||
| 36 | 52 | F | 4 | 70 | 28 | 8 | 20 | 0.0 | conj | |||||
| CTE | 37 | 8 | M | 2 | 16 | 15 | 25 | 11 | 1 | 2.8 | 17.5 | |||
| 38 | 18 | F | 2 | 20 | 21 | 17.5 | 8.5 | 2.5 | 3.0 | 17 | 6.0 | mix | ||
| 39 | 18 | M | 2 | 27 | 18 | 31 | 13 | 1.5 | 3.9 | 14 | 12.6 | co | Y | |
| 40 | 51 | F | 3 | 77 | 45 | 35 | 4 | 3 | 3.0 | 29 | 0.0 | conj | Y | |
| Chromosomal | 41 | 4 | F | 2 | 6 | 1.6 | mix | |||||||
| 42 | 11 | M | 4 | 53 | 20 | 4 | 19 | |||||||
| 43 | 11 | M | 4 | 78 | 20 | 3 | 3.5 | 1.0 | 33 | |||||
| 44 | 14 | F | 3.5 | 36 | 26 | 22.5 | 4 | 2.5 | 1.7 | 12 | 0.0 | conj | Y | |
| 45 | 20 | F | 2.5 | 0 | 12 | 35 | 8.5 | 2 | 1.7 | 16 | 0.0 | conj |
Data represent average across both eyes.
Note: Participant numbering is consistent with the numbering published elsewhere,14 with values in parentheses representing family number. A blank cell indicates missing data.
AAK, aniridia-associated keratopathy; CNFL, corneal subbasal nerve fiber length density; co, corneal epithelium; conj, conjunctival epithelium; CTE, C-terminal extension; Epi phenotype, central corneal epithelial phenotype; F, female; IOP, intraocular pressure; M, male; mix, mixed corneal/conjunctival epithelium; OPI, Ocular Protection Index; OSDI, Ocular Surface Disease Index; OSS, Oxford Staining Score; PTC, premature termination codon; TFBUT, tear film break-up time.