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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Hyperreflective Outer Nuclear Layer as a Biomarker of Early Stargardt Disease. A Case Report
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    1. Vibhor 26 Jul 2026
      -year-old girl without any detectable fundus abnormalities.

      Case#: Patient 8 yo, F, Turkiye, onset at 8yo (early onset)

      DiseaseAssertion:STGD1

      FamilyInfo: no consanguinity between parents, neither parents are affected or show symptoms

      CasePresentingHPOs: HP:0008035, HP:0011504

      CaseHPOFreeText: vision of 6/10

      CaseNotHPOs: HP:0000007, HP:0000608

      CaseNotHPOFreeText: normal movements and mobility, unremarkable slit-lamp, no fundoscopy changes, unremarkable OCT

      Genotyping Method: N/A

      PreviouslyPublished: N/A

      Variant: NM_000350.3a: c.3322C>T,p.(Arg1108Cys)rs61750120

      CAID: CA220683

      SupplementalData: N/A

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:STGD1 Zygosity:Heterozygous CAID:CA227404 FundusAutofluorescence Bull’sEyeMaculopathy FamilyInfo automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    pubmed.ncbi.nlm.nih.gov/40948369/