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Proptosis of the eye: a potential form of Madelung’s disease
  1. Shayan Soomro1,
  2. Kimia Ziahosseini2 and
  3. Poonam Sharma2
  1. 1 Norwich Medical School, University of East Anglia, Norwich, UK
  2. 2 Ophthalmology Department, Norfolk and Norwich University Hospitals Eye Department, Norwich, UK
  1. Correspondence to Shayan Soomro; wab16aqu{at}uea.ac.uk

Abstract

Madelung’s disease is a rare disorder characterised by excessive and symmetrical deposits of adipose tissue, typically in the cervicofacial region. Alcohol is a known cause of the condition, however, there are reports that this condition is genetically inherited. Lipomatosis of the orbit has been described in the alcoholic Madelung’s disease, however, in our case report, we believe this is the first reported instance of proptosis caused by the genetic form of the condition. We present a 69-year-old woman, with a medical history of genetic Madelung’s disease, who presented with bilateral proptosis worse in her right eye. Her ocular examination was normal apart from exophthalmometry, showing bilateral proptosis. This was confirmed by an MRI, which further showed intraorbital fat deposition bilaterally. Due to the stability of her condition, no treatment was deemed necessary. We highlight the importance of monitoring for progressive optic nerve compromise and liposarcomatous malignant transformation.

  • ophthalmology
  • visual pathway
  • genetics

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Footnotes

  • Contributors SS involved in researching the condition, writing-up of the case report and referencing. PS contributed to editing the write-up and ensuring references are correct and adequate. KZ contributed to editing the write-up.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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