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Congenital iris ectropion as an indicator of variant aniridia
  1. C Willcock1,
  2. J Grigg2,
  3. M Wilson3,
  4. P Tam4,
  5. F Billson5,
  6. R Jamieson6
  1. 1Eye Genetics Research Group, Save Sight Institute, The Children’s Hospital at Westmead and Children’s Medical Research Institute, Sydney, NSW, Australia
  2. 2Discipline of Ophthalmology and Save Sight Institute, Faculty of Medicine, University of Sydney, NSW, Australia
  3. 3Department of Clinical Genetics, Western Sydney Genetics Program, The Children’s Hospital at Westmead, NSW, Australia
  4. 4Embryology Unit, Children’s Medical Research Institute, Westmead, NSW, Australia
  5. 5Discipline of Ophthalmology and Save Sight Institute, Faculty of Medicine, University of Sydney, NSW, Australia
  6. 6Eye Genetics Research Group, Save Sight Institute and The Children’s Hospital at Westmead and Children’s Medical Research Institute, Sydney, and Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, NSW, Australia
  1. Correspondence to: Dr Robyn Jamieson The Children’s Hospital at Westmead, Hawkesbury Road, Locked Bag 4001, Westmead, Sydney, NSW 2145 Australia; robynj{at}chw.edu.au

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Aniridia and its variants may cause diagnostic difficulty especially when the iris is not wholly or partially absent.1,2 In congenital iris ectropion (also called ectropion uveae), the posterior pigment epithelium of the iris extends onto the anterior iris surface causing darkening around the pupil. We report a man and his infant son with variant aniridia and a mutation in the PAX6 gene, where the major anterior segment finding was iris ectropion.

Case report

A 30 year old man with bilateral iris ectropion, vision impairment, and nystagmus attributed to optic nerve hypoplasia, and his infant son also with poor vision, were examined. A search of the man’s previous ophthalmic records indicated that at 6 weeks of age he had poor vision, nystagmus, myopia (−6.0 D), and small, anomalous optic discs. Ectropion uveae was noted in the records at age 9 years. A poorly developed foveal reflex was identified in his late teens. A magnetic resonance imaging (MRI) …

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