Table 2.
Summary of clinical findings and mutations in patients with PITX2 mutations.
| Patient | Diagnosis | Mutations (isoform a) | Age of onset (year) | IOP (mmHg) (OD; OS) | BCVA (OD; OS) | Corneal changes (OU) | Ocular findings (OU) | Dental anomalies | Other findings |
|---|---|---|---|---|---|---|---|---|---|
| 1 | ARS glaucoma cataract high myopia | c.475_476delCT (P.L159VfsX39) | 3 | 47; 39 | FC10; FC50cm | Megalocornea | Aniridia, PE | Missing and misshapen teeth | Midface abnormalities hearing defects |
| 2 | ARS glaucoma | c.64C > T (P.Q22X) | 7 | 26; 29 | 0.2; 0.1 | Microcornea peripheral corneal opacity | Iridocorneal adhesions coremetamorphosis, corectopia, IH | Missing and misshapen teeth | Flat face prominent lower lips |
| 3 | ARS glaucoma | c.296delG (P.R99PfsX56) | 11 | 25; 44 | 0.5; 0.3 | Peripheral corneal opacity | Iridocorneal adhesions coremetamorphosis, corectopia, IH | Hypodontia | Redundant periumbilical skin telecanthus, flat nasal bridge |
| 4 | ARS glaucoma | c.206G > A | 11 | 29; 41 | 0.6; 0.05 | Microcornea | Stretched pupil | Microdontia | Midface abnormalities, appendages |
Clinical characteristics, including age of onset, IOP, BCVA, corneal changes, ocular findings, dental anomalies, and other findings, are shown in this table. Abbreviations: IOP, normal intraocular pressure; BCVA, best-corrected visual acuity; PE, posterior embryotoxon; IH, iris hypoplasia; FC, finger count.