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    PERIPAPILLARY ATROPHY IN STARGARDT DISEASE
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    1. Vibhor 26 Jul 2026
      Case 5

      Case#: a 46-year-old male

      DiseaseAssertion: Stargardt Disease

      FamilyInfo:visual acuity loss by his brother and father

      CasePresentingHPOs: HP:0007663

      CaseHPOFreeText: visual acuity measured 20/400 bilaterally

      CaseNotHPOs: NR

      CaseNotHPOFreeText:NR

      Genotyping Method: ABCA4 microarray (ABCR5000 chip)

      PreviouslyPublished: NR

      Variant: c.5714+5G>A

      ClinVar: 99403

      CAID: CA227338

      SupplementalData:NR

      ClinVar: 99403 CA227338 General Gene:ABCA4 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC2743754/