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Kjellin’s syndrome: Fundus autofluorescence, angiographic, and electrophysiologic findings

Frisch, I B, Haag, P, Steffen, H, Weber, Bernhard H. F. and Holz, F G (2002) Kjellin’s syndrome: Fundus autofluorescence, angiographic, and electrophysiologic findings. Ophthalmology 109 (8), pp. 1484-1491.

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Abstract

OBJECTIVE: Syndromes with genetically determined retinal diseases and concurrent multiple neurologic abnormalities are rare. Kjellin described an autosomal recessive entity with spastic paraplegia, mental retardation, amyotrophia, and macular dystrophy. We sought to further characterize the retinal phenotype and to contrast fundus changes and the genotype to Stargardt's disease in a young patient ...

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Item type:Article
Date:2002
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1016/S0161-6420(02)01110-7DOI
12153800PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35847
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