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    The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
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    1. Vibhor 26 Jul 2026
      ABCA4

      In supplemental table S2, Case LL345 is listed as "likely solved" with a clnical diagnosis of Stargardt disease. Proband is compound heterozygous for c.4139C>T p.(Pro1380Leu) and c.4918C>T p.(Arg1640Trp).

      In Supplemental table S1, this proband is a female, 25yo at report, 11yo at onset. Decreased VA: 0.08/0.05, emmetropia OU

      SupplementalTable CaseInfo Individual ClinVarID: 7904 CA129033 ClinVarID: 99330 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC10003751/