Table 2: Summary of clinical findings and mutations in patients with PITX2 mutations.

PatientDiagnosisMutations (isoform a)Age of onset (year)IOP (mmHg) (OD; OS)BCVA (OD; OS)Corneal changes (OU)Ocular findings (OU)Dental anomaliesOther findings

1ARS glaucoma cataract high myopiac.475_476delCT (P.L159VfsX39)347; 39FC10; FC50cmMegalocorneaAniridia, PEMissing and misshapen teethMidface abnormalities hearing defects
2ARS glaucomac.64C > T (P.Q22X)726; 290.2; 0.1Microcornea peripheral corneal opacityIridocorneal adhesions coremetamorphosis, corectopia, IHMissing and misshapen teethFlat face prominent lower lips
3ARS glaucomac.296delG (P.R99PfsX56)1125; 440.5; 0.3Peripheral corneal opacityIridocorneal adhesions coremetamorphosis, corectopia, IHHypodontiaRedundant periumbilical skin telecanthus, flat nasal bridge
4ARS glaucomac.206G > A1129; 410.6; 0.05MicrocorneaStretched pupilMicrodontiaMidface 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.