Axenfeld-Rieger Syndrome in Monozygotic Twins

Abstract

Two teenaged monozygotic twin sisters with Axenfeld-Rieger syndrome (ARS) were referred to our center for uncontrolled glaucoma from the local hospital in December 2006. At presentation, typical components of ARS could be found in both patients, including iris anomaly, maxillary hypoplasia, hypodontia, and umbilical skin fold. Both sisters received trabeculectomy in both the eyes later in our center. Intraocular pressure was well controlled in both the eyes in both patients 1 year after the surgeries. No mutations were found by direct sequencing of PITX2 and FOXC1 genes, in the twin sisters. As far as we know, no earlier report has described monozygotic twins with ARS in the international literature.

The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld–Rieger syndrome patient with small cornea: a case report

“…Systemic findings include mild midface abnormalities, dental and cardiovascular abnormalities, and redundant umbilical skin [4]. Till now, only very few cases have reported the clinical features of ARS, with retinal detachment, keratoconus, developmental glaucoma and so on [3,[5][6][7][8]. In the present report, small cornea, iris lesions, pupil deformation and cataract were first discovered after the slit microscope examination, and through careful examination of the atrial Angle, the posterior corneal embryonic ring was also found.…”

The rare Axenfeld–Rieger syndrome with systemic anomalies

“…Since around 50% of ARS patients will develop glaucoma, conventional glaucoma surgeries like trabeculectomy and trabeculotomy are still required. [ 5 , 12 ] With a 20-year follow-up, Mandal and Pehere [ 38 ] confirmed the safety and effectiveness of the combination of trabeculotomy and trabeculectomy for ARS children with early-onset of glaucoma. Mitomycin C (MMC) or the newly developed Ologen Collagen matrix reducing subconjunctival fibrosis may effectively lower IOP in long-term.…”

“…[ 4 ] Till now, there have been only a very few cases reported the clinical features of ARS in Chinese Han population. [ 5 – 7 ] In the present case, we aimed to report a Chinese female ARS patient with retinal detachment. A brief review of literature on this disease will also be provided.…”

Axenfeld-Rieger syndrome associated with severe maxillofacial and skeletal anomalies

“…[ 4 5 6 ] The pathogenesis is believed to be the impaired neural crest cell and ectodermal migration and differentiation during embryonic development. [ 1 7 ] The ocular and systemic features of ARS including craniofacial, dental, abdominal abnormalities are well-described in literature and multiple additional abnormalities have been reported in association with ARS, including sensorineural hearing loss and cardiac abnormalities[ 6 ] however the association of ARS with severe maxillofacial and skeletal anomalies has not been reported previously. [ 5 ] These anomalies, in addition to the well-recognized extraocular findings, may occur in patients with ARS and our case highlights this possible rare association by this photo assay.…”