Supplementary Material

Chapter 12

Axenfeld-Rieger cases from
AR Iris Hypoplasia (slit lamp only): This is a patient with Axenfeld-Rieger Syndrome who was not diagnosed until he was 21 years of age. He has iris stromal hypoplasia without polycoria or corectopia. He does have dental anomalies, redundant periumbilical skin, and hypospadias. This patient has a mutation in the PITX2 gene.

AR Syndrome - Mild: This young woman is the mother of a 1 year-old child referred for evaluation of Axenfeld-Rieger syndrome. This woman has no history of glaucoma and no systemic features of Axenfeld-Rieger syndrome. Her daughter had marked corectopia and polycoria but also did not have glaucoma.

Axenfeld-Rieger Syndrome (1): This young patient has a strong family history of Axenfeld-Rieger syndrome. He has no obvious embryotoxon but does have iris hypoplasia and, on gonioscopy. has multiple iris processes up to the embryotoxon.

Axenfeld-Rieger Syndrome (2): This patient has a family history of Axenfeld-Rieger syndrome (ocular findings only). She has had glaucoma since a very young age and has had two trabeculectomies. She has mild iris hypoplasia and a posterior embryotoxon.

Axenfeld-Rieger Marked (slit lamp only): 4 year-old boy whose father has unilateral ectopic pupil, small teeth, redundant periumbilical skin and glaucoma. This patient has the iris changes seen here and dental and umbilical changes – through age seven he has no glaucoma.

AR Syndrome - Broken Embryotoxon: This 36 year-old man was diagnosed first as having glaucoma in 1978. He has had intermittent care throughout his life and has been lost to follow-up many times. He first presented here with no light perception vision in the right eye and 20/40 vision in the left eye. His intraocular pressures were 26 mmHg OD and 13 mmHg OS. He has systemic features of Axenfeld Rieger Syndrome including microdontia and maxillary hypoplasia.

Axenfeld-Rieger Syndrome (3): Presented at age 8 with elevated intraocular pressure in both eyes. She had pressures as high as 40 mmHg OU. She underwent trabeculectomies OU. She is now 20 years-old and her IOP is now well controlled on no medication.

AR Syndrome - Phenotypic Variability: This 8 year-old girl was born prematurely at 23 weeks of gestation. She had cloudy corneas in the first few weeks of life and IOP’s into the mid 40 range. She was diagnosed with primary congenital glaucoma. She had multiple surgeries for glaucoma. With time her iris took on a more hypoplastic look. She was also noted to be small for her age. Because of this she was tested for mutations in the PITX2 and FOXC1 genes. She was found to have a mutation in the FOXC1 gene that was shared by her mother (who had no glaucoma) and her brother (who had no known glaucoma but did have cardiac valve disease – which can be associated with FOXC1 mutations.

Axenfeld-Rieger Syndrome (4): This 22 year-old woman who has had glaucoma since early childhood. She has had at least seven surgeries by her history and was evaluated during the evaluation of her son who also has developmental glaucoma. She has count fingers vision in the right eye and 20/20 in the left. Her intraocular pressures are 20 mmHg OD and 14 mmHg OS using timolol, dorzolamide, and latanoprost in the right eye. One can see the marked embryotoxon and iris hypoplasia OU and changes in the right eye that are partially from the multiple surgical procedures.

Peters anomaly cases from

Peripheral Peters Anomaly: This patient was seen at age 16 at the University of Iowa in 1976 with 20/50 vision OD and 20/200 vision OS. He has retinopathy of prematurity, left esotropia, and nystagmus. On slit lamp examination he had this interesting adhesion bilaterally between the cornea and the iris that was called a peripheral Peter’s variant. The video here was taken 32 years later when his vision had decreased to count fingers in the left eye due to his worsening cataract.

Unknown Angle Anomaly: This patient was seen at age 16 at the University of Iowa in 1976 with 20/50 vision OD and 20/200 vision OS. He has retinopathy of prematurity, left esotropia, and nystagmus. On slit lamp examination he had this interesting adhesion bilaterally between the cornea and the iris that was called a peripheral Peter’s variant. The video here was taken 32 years later when his vision had decreased to count fingers in the left eye due to his worsening cataract.