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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    PERIPAPILLARY ATROPHY IN STARGARDT DISEASE
    1
    1. Vibhor 26 Jul 2026
      Case 1

      Case#: 55 year old female

      DiseaseAssertion: Stargardt

      FamilyInfo: no significant ocular disease shown.

      CasePresentingHPOs: difficulty reading materials 6 inches from her eyes, decreased visual acuity from age seven. BCVA was 20/150 OU. Posterior segment exam and autofluorescence was significant for bilateral central atrophy and pisciform fleck atrophy involving the peripapillary, macular, and peripheral regions.

      CaseHPOFreeText: NR

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      Genotyping Method: ABCR400 microarray

      PreviouslyPublished: NR

      Variant: NM_000350.3:c.4139C>T, NM_000350.3(ABCA4):c.6089G>A

      ClinVar: 7904, 99428

      CAID: CA129033

      SupplementalData: NR

      ClinVar: 7904 CA129033 CaseInfo General Gene:ABCA4 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC2743754/