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Article

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

Ophthalmology - 1 Aug 2002

Frisch Inez B, Haag Peter, Steffen Heimo, Weber Bernhard H F, Holz Frank G

Abstract excerpt

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 with progressive...

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Source

Identifiers

PMID: 12153800
DOI: 10.1016/s0161-6420(02)01110-7

Genes

ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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