Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome

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.