You are here

Article Text

Article menu
Letter to the Editor
Aniridia in a patient with tuberous sclerosis
  1. D MILEA,
  2. C BURILLON
  1. Clinique Ophtalmologique Universitaire
  2. Hôpital Edouard Herriot, Lyon, France
  1. Dan Milea, MD, Clinique Ophtalmologique Universitaire, Pavillon C, Hôpital Edouard Herriot, 3, Place Arsonval, 69003 Lyon, France.

https://doi.org/10.1136/bjo.81.9.802c

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Editor,—Tuberous sclerosis is a multisystem disorder of autosomal dominant inheritance. Associated pathological ocular findings include depigmented retinal areas and retinal hamartomas.1 Less common are the iris abnormalities such as depigmentation or atypical colobomas.2-5 We report the first described case of aniridia in a patient with tuberous sclerosis.

    CASE REPORT

    A 62-year-old white man with inherited tuberous sclerosis, diagnosed in his early childhood, was referred for ophthalmic assessment. The classic diagnostic triad of the disease1 was present—mental retardation, epilepsy, and adenoma sebaceum (Fig 1). Systemic involvement also included documented renal hamartomas resulting in renal failure and kidney transplantation.

    Figure 1

    Characteristic facial distribution of adenoma sebaceum.

    His past ocular history was unremarkable, including denial of ocular trauma or episodes of ocular redness. The patient denied instillation of any local treatment. The best corrected visual acuity was 20/80 in his …

    View Full Text