Axenfeld-Rieger syndrome type 1

An Axenfeld-Rieger syndrome characterized by abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals that has_material_basis_in heterozygous mutation in the homeobox transcrip

An Axenfeld-Rieger syndrome characterized by abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.

Signs and symptoms

• Ectopia pupillae
• Thin upper lip vermilion
• Oligodontia
• Microdontia
• Posterior embryotoxon
• Hypoplasia of the iris
• Anal stenosis
• Anal atresia
• Strabismus
• Megalocornea

Also known as: RIEG1; Rieger syndrome type 1