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Article

Keratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report.

Ophthalmic genetics - 1 Oct 2025

Dimitrova Galina, Ristikj Stomnaroska Daniela, Gilevska Fanka, Ljubic Antonela, Veljanovski Dimitar, Plaseska-Karanfilska Dijana

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia 15 (HSP15) is a rare genetic disease manifesting with progressive muscle spasticity and paralysis of the lower limbs (paraplegia) caused by mutations in the ZFYVE26 gene. When spastic paraplegia is accompanied by retinal degeneration and cognitive impairment, it is known as Kjellin syndrome. We report on ocular manifestations in a case with HSP15 and Kjellin syndrome....

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Identifiers

PMID: 40400141
DOI: 10.1080/13816810.2025.2507084

Genes

ZFYVE26

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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