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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Postmortem Retinal Structural and Metabolic Analysis After Human Embryonic Stem Cell–derived Retinal Pigment Epithelium Transplantation in a Patient With Stargardt Disease
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    1. Vibhor 26 Jul 2026
      The patient was an 80-year-old man

      Case#: 80 yo M, siagonosed at 18 yo

      DiseaseAssertion: Stargardt

      FamilyInfo: one of his 2 sisters had same mutation to ABCA4

      CasePresentingHPOs:,HP:0007663, HP:0008002

      CaseHPOFreeText: RPE hyperplasia, atrophy of the inner and outer photoreceptor segments, the outer nuclear layer, and the outer plexiform layer, with scanty RPE cells in the macular area

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      Genotyping Method: N/A

      PreviouslyPublished: none

      Variant: G1961E

      ClinVar: 7888

      SupplementalData: See supplemental Material for further look at the probands Human Embryonic Stem Cell-derived Retinal Pigment Epithelium Transplantation

      Gene:ABCA4 HGNC:34 InheritancePattern:PathogenicHeterozygous DiseaseEntity:STGD1 Zygosity:Heterozygous ClinVarID:7888 MacularFlecks MacularAtrophy DecreasedCentralVA SupplementalData automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC12657203/