Alström syndrome--an uncommon cause of early childhood retinal dystrophy.
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.
Ophthalmology Department, University of Auckland, Auckland, New Zealand. l.sheck@auckland.ac.nz.
Leo
L
Sheck
Rasha
R
Al-Taie
Dianne
D
Sharp
Andrea
A
Vincent
D056769:Alstrom Syndrome / Q000150:complications* / Q000175:diagnosis*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging; D006801:Humans; D008297:Male; D058499:Retinal Dystrophies / Q000175:diagnosis* / Q000209:etiology*