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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Focal choroidal excavation in Stargardt’s dystrophy
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    1. Vibhor 26 Jul 2026
      35-year-old woman

      **Case#: ** Female, 35yo

      FamilyInfo: Unremarkable

      CasePresentingHPOs: HP:0000529 Progressive visual loss, HP:0030532 Visual acuity, HP:0007401 Macular atrophy

      CaseHPOFreeText: 35-year-old woman presented with symptom of gradually progressive diminution of vision in both eyes since childhood. Patient gave no history of defective night vision.

      CaseNotHPO n/a

      GenoTypeMethod: n/a (optical coherence tomography (OCT))

      CasePresentingHPOs: n/a DiseaseEntity: SD InheritancePattern: Autoflourescence revealed Hypoautofluorescence Hypoautofluorescence autoflourescence Gene: ABCA4 automated_hgnc:34 automated_hgnc_source:Gene_Name ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC7449287/