For a variant in MFSD8 linked to neuronal ceroid lipofuscinosis and non‐syndromic retinopathy [40], as well as variants in OPA1‐associated with dominant optic atrophy [41], we found strong concordance between minigene assay results and patient‐derived cDNA analyses. Here, MFSD8 is linked to infantile neuronal ceroid lipofuscinosis.