To access the data, click or select the words “Appendix 4.” Detailed structure analysis and pathogenicity assessments of the missense ABCA4 variants in the study. Reference genome assembly: GRCh38:Chr1:83457325-104273917. Reference Transcript: NM_000350.3. ConSurf Score: A measure of amino acid evolutionary conservation based on the ConSurf web server analysis. The score ranges from 1-9 with increasing conservation [45]. Allele frequencies: Based on The Genome Aggregation Database (gnomAD) v3.1.2 [47]. AF2 Residual pLDDT: Based on the full-length WT ABCA4 AF2 model and corresponding WT residue. FL-Variant pLDDT: For the entire full-length ABCA4 variant AF2 models. RMSD (Å): The root-mean-square deviation. Based on the structural comparison of the full-length AF2 predicted variant and WT ABCA4 models. Destabilizing variants: Predicted using Gibbs free energy change calculation in the FoldX plugin for YASARA [40,41]. Side chain steric clashes: Reported only when all possible rotamers lead to clashing interactions. ECD (Exocytoplasmic domain), NBD (Nucleotide-binding domain), TMD (Transmembrane domain), and IH (intracellular α-helix). PDB IDs of the cryo-EM structures of the human ABCA4 used in the analyses: 7lkp, 7lkz, 7e7i, 7e7q, 7e7o, 7e7q, 7m1p, 7m1q). HSF Pro Version 4: Used to interpret potential splicing effects [46].