It also explained why the proband had symptoms of epilepsy in addition to eye diseases because mutations in the MFSD8 gene cloud cause CLN7, which mainly manifests as RP, language delay, seizures, etc. The RP of his mother and aunt was caused by the homozygous mutation of RDH12 (c.343+1G > A), which originates from their parents, and their parents are heterozygous. Here, MFSD8 is linked to neuronal ceroid lipofuscinosis 7.