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Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination

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Brock, Vincent | Wissocq, Anna | Geoffre, Nicolas | Marks, Caroline | Canel, Vincent | Huin, Vincent

Edité par CCSD ; Wichtig Editore -

International audience. IntroductionSpastic paraplegia (SPG) is a heterogenous group of neurodegenerative disorders, that may include ocular involvement. Here we report the clinical data of a patient with late-onset Kjellin syndrome, a peculiar form of hereditary SPG with macular dystrophy.Materials and MethodsClinical, functional and multimodal retinal imaging data were collected. Genetic testing was performed by Whole Exome Sequencing (WES).ResultsA 52-year-old female patient with SPG of unknown origin was referred for a progressive visual acuity loss. Multimodal fundus imaging revealed a peculiar macular dystrophy. Given the specific association of macular dystrophy and SPG, a Kjellin syndrome was suspected and genetic testing performed. WES revealed biallelic pathogenic variants in SPG11, co-segregating with disease in the family.ConclusionCareful ophthalmological examination prompted the diagnosis and guided molecular testing. This case underlines the importance of a neuro-ophthalmologic assessment in patients with SPG.

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