Spastic paraplegia type 11 (SPG11) is a common cause of autosomal recessive hereditary spastic paraplegia. It is frequently characterized by thinning of the corpus callosum and other neurological and extra-neurological features. Ocular involvement, including macular dystrophy, termed Kjellin syndrome, is increasingly recognized but may be clinically silent. We report a case of a 47-year-old man with an eight-year history of progressive gait disturbance and spastic paraparesis who was found to carry a likely pathogenic homozygous missense variant in the SPG11 gene (c.5381T>C; p.Leu1794Pro). Despite minimal visual symptoms, detailed ophthalmic assessment revealed characteristic diffuse macular changes on multimodal retinal imaging. This case highlights the phenotypic spectrum of SPG11-associated disease and underscores the importance of ophthalmologic evaluation in patients with hereditary spastic paraplegia, even in the absence of overt visual complaints. Moreover, it highlights the varying autofluorescence properties of the observed macular lesions.
Grech et al. (Thu,) studied this question.