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BMJ Case Rep. 2011 Aug 17;2011. pii: bcr0620114388. doi: 10.1136/bcr.06.2011.4388.

Alström syndrome--an uncommon cause of early childhood retinal dystrophy.

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  • 1Ophthalmology Department, University of Auckland, Auckland, New Zealand. l.sheck@auckland.ac.nz.

Abstract

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.

PMID:
22688943
[PubMed - indexed for MEDLINE]
PMCID:
PMC3171033
Free PMC Article
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