In addition to spastic paraplegia of the lower limbs, hypomyelination in the brain, and a hearing deficit at high frequencies, patients with the ELOVL1 mutation exhibit thinning of the nerve fiber layer in the retina, decreased visual acuity, and astigmatism; one patient also exhibited photophobia.17, 18 Therefore, we performed other tests that evaluate neurological functions not limited to motor and auditory functions. Here, ELOVL1 is linked to Photophobia.