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Article

Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.

Ophthalmology - 1 Mar 2011

Puech Bernard, Lacour Arnaud, Stevanin Giovanni, Sautiere Bruno G, Devos David, Depienne Christel, Denis Elodie, Mundwiller Emeline, Ferriby Didier, Vermersch Patrick, Defoort-Dhellemmes Sabine

Abstract excerpt

OBJECTIVE: Kjellin's syndrome is a hereditary neuro-ophthalmologic syndrome. We describe the clinical phenotypes of 7 patients, identifying the responsible mutations for 4 of them. A 10-year ophthalmologic and neurologic follow-up of 5 patients allowed us to describe the disease's characteristics...

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Source

Identifiers

PMID: 21035867
DOI: 10.1016/j.ophtha.2010.07.024

Genes

SPG11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21035867-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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