In family L, the novel variant p.Lys22Asn was predicted to be pathogenic by both CADD and MutationTaster, and its frequency in the population is unknown. This variant may be related to the presentation of Stargardt disease in two individual cases. In individual I1, this variant was associated with the complex allele p.[Ser1642Arg; Val1682_Val1686del], whereas in individual II2, this variant was associated with the p.Gly1901Glu variant. This repetition may support the hypothesis that the variant is indeed pathogenic.