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Title

Kjellin's syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings

Authors
Frisch, Inez B
Haag, Peter
Weber, Bernhard H F
Holz, Frank G
Published in Ophthalmology. 2002, vol. 109, no. 8, p. 1484-91
Abstract 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 with progressive Kjellin's syndrome.
Keywords ATP-Binding Cassette Transporters/geneticsAdultDNA Mutational AnalysisElectrooculographyElectroretinographyFemaleFluorescein AngiographyFluorescenceFundus OculiGenotypeHumansIntellectual Disability/diagnosis/geneticsMuscular Atrophy/diagnosis/geneticsMutationParaplegia/diagnosis/geneticsPedigreePolymerase Chain ReactionRetinal Degeneration/diagnosis/geneticsSyndrome
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PMID: 12153800
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FRISCH, Inez B et al. Kjellin's syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings. In: Ophthalmology, 2002, vol. 109, n° 8, p. 1484-91. https://archive-ouverte.unige.ch/unige:93194

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Deposited on : 2017-04-05

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