SPG11 and Atrophy: ,79 In particular, the mild to moderate flecked maculopathy with limited atrophy, predominantly observed in younger individuals, closely resembled ocular features of Kjellin syndrome, a late-onset neuro-ophthalmologic disorder caused by pathogenic variants in SPG11 and ZFYVE26. 80,81,82 Previous studies have also shown that fibroblasts derived from individuals carrying mutations in SPG11 and ZFYVE26, as well as RPE cell lines depleted for these genes, exhibit significantly enlarged lysosomes and endolysosomes in addition to an accumulation of autolysosomes.83