In contrast to other previously known SCA34-causing ELOVL4 mutations, which showed no retinal degeneration [28–30, 35], the I171T ELOVL4 mutation was associated with retinitis pigmentosa, a degenerative retinal disease, in 4 of the 10 family members examined (three males and one female). Here, ELOVL4 is linked to retinitis pigmentosa.