MFSD8 and Cone rod dystrophy: Notably, the splice variant c.750A > G, described above, was identified in compound heterozygosity in two cases: (1) with a frameshift deletion (c.755-2726_998 + 1981delinsGTA) in a patient with the CLN7 classical phenotype; (2) with the NSRD-specific c.1006G > A in a subject with cone-rod dystrophy [27].