Longitudinal study of the early electroretinographic changes in Alström's syndrome.

Abstract:

:We obtained serial electroretinograms in four patients aged between 6 months and 5 years with Alström's syndrome and studied the early stages of the severe retinopathy that is characteristic of that disease. The weak electroretinographic signals found at age 6 months demonstrate a severe early cone dysfunction; one year later the cone activity is undetectable. The rod component of the electroretinogram is initially normal but can rapidly deteriorate to become undetectable as early as 5 years of age. These unusual electroretinographic findings are pathognomonic of Alström's syndrome and different from other cone-rod dystrophies or other syndromes with similar phenotypes such as Bardet-Biedl, Laurence-Moon, and Cohen syndromes.

journal_name

Am J Ophthalmol

authors

Tremblay F,LaRoche RG,Shea SE,Ludman MD

doi

10.1016/s0002-9394(14)71466-7

subject

Has Abstract

pub_date

1993-05-15 00:00:00

pages

657-65

issue

5

eissn

0002-9394

issn

1879-1891

pii

S0002-9394(14)71466-7

journal_volume

115

pub_type

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