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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Phenotype/genotype correlation in a case series of Stargardt's patients identifies novel mutations in the ABCA4 gene
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    1. Vibhor 26 Jul 2026
      Case 1

      Case#:1, 44-year-old man

      DiseaseAssertion: Stargardt disease

      FamilyInfo: no known family history of an ocular disease

      CasePresentingHPOs: HP:0007663, HP:0007793, HP:0012045, HP:0000603

      CaseHPOFreeText: gradual, relatively recent decreased visual acuity in the right eye, some pigment mottling in both maculae and ‘fish-tail'-like retinal flecks, central relative scotoma

      CaseNotHPOs:

      CaseNotHPOFreeText:

      Genotyping Method: “Analysis of the entire coding region of the ABCA4 gene”

      PreviouslyPublished: NR

      Variant: NM_000350.3:c.191C>T

      ClinVar:2733951

      CAID:CA341285580

      SupplementalData:

      RPEMottling InheritancePattern:NoInheritanceAssertion ClinVarID:2733951 CAID:CA341285580 Scotoma automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC3831132/