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Rare disease
Alström syndrome – an uncommon cause of early childhood retinal dystrophy
  1. Leo Sheck1,
  2. Rasha Al-Taie2,
  3. Dianne Sharp2,
  4. Andrea Vincent1
  1. 1Ophthalmology Department, University of Auckland, Auckland, New Zealand
  2. 2Ophthalmology Department, Auckland District Health Board, Auckland, New Zealand
  1. Correspondence to Dr Leo Sheck, l.sheck{at}auckland.ac.nz

Summary

Alström syndrome (AS) is a ciliopathy and an uncommon cause of syndromic retinal dystrophy. This case reports findings in a 5-year-old boy with severe early onset retinal dystrophy, and how the recognition of extraocular features with genetic analysis led to the correct diagnosis of AS after 4 years of investigation.

https://doi.org/10.1136/bcr.06.2011.4388

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    Footnotes

    • Competing interests None.

    • Patient consent Obtained.