Title: Axenfeld Rieger Syndrome: A Case Report
Authors: Kashyap Anurag Kumar, Sharan Sarang Pani, Singh Hemendra, Srivastav Tanmay, Mishra Deepak
DOI: https://dx.doi.org/10.18535/jmscr/v8i4.60
Abstract
Axenfeld Rieger Syndrome is a rare autosomal dominant multisystem disorder. In this particular disorder there is ocular, craniofacial and dental anomalies. Ocular abnormalities include correctopia, polycoria and in late childhood or adolescence about half of affected individuals develop glaucoma. In our particular case, A 11 year old male consulted in our department for watering and discharge from both eyes and diminution of vision since childhood. On general examination he had right sided head tilt, hypertelorism and flat nasal bridge. On ocular examination his visual acuity was finger count at 3m in both eyes which did not improved with pin hole. Bitot spot was present in both eyes along with polycoria and correctopia in anterior segment. On fundus examination generalized tessellation was present in right eye and both eye had glaucomatous optic atrophy with vertical Cup: Disk ratio of 0.8- 0.9. He was diagnosed as a case of Axenfeld Reiger Syndrome with early onset glaucomatous optic atrophy. He was prescribed Intra ocular pressure lowering drugs and his pressures were well controlled on medication.
Keywords: axenfeld reiger syndrome, correctopia, polycoria, bitot spot.
References
- Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet. 1992;2(3):232-239.
- Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet. 1996; 14(4):392-399.
- Axenfeld TH. Embryotoxon cornea posterius. Klin Monatsbl Augenheilkd. 1920;65:381-382
- Shields MB. Axenfeld-Rieger syndrome. A theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc. 1983;81:736
- Shields MB. Axenfeld-Rieger and Iridocorneal Endothelial syndromes: Two spectra of Disease with Striking Similarities and Differences. J of Glaucoma. 2001;10(suppl 1):S36-S38.