Around 700 cases of Alstrom syndrome are known worldwide.
It is characterized by:
The first clinical presentation is usually with nystagmus and progressive visual impairment before the age of 15 months. Intelligence is normal.
Diagnosis is clinical.
A mutation in the ALMS1 gene is estimated to be present in 25-40% of cases.
Inheritance is autosomal recessive, but clinical variability in affected individuals is wide, even among siblings.
Contributor Dr Andrew Jones (September 2010)
Reference:
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