Scientific Article
previous document  unige:93194  next document
add to browser collection

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

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
PMID: 12153800
Full text
Article (Published version) (458 Kb) - document accessible for UNIGE members only Limited access to UNIGE
(ISO format)
FRISCH, Inez B et al. Kjellin's syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings. In: Ophthalmology, 2002, vol. 109, n° 8, p. 1484-91.

57 hits

0 download


Deposited on : 2017-04-05

Export document
Format :
Citation style :