2 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    AOS_1839_com 289..298
    1
    1. Vibhor 26 Jul 2026
      66-year-old man

      Case#: Patient 66yo, M, Japan, Symptoms in teens

      DiseaseAssertion: Stargardt (STGD) Heterozygous, Autosomal recessive

      FamilyInfo: No family with similar symptoms

      CasePresentingHPOs: HP:0008002, HP:0007722, HP:0000610, HP:0000602

      CaseHPOFreeText: Ring shaped paracentral scotoma

      CaseNotHPOs: HP: 0030329, HP:0000608, HP:0000493

      CaseNotHPOFreeText: Well preserved foveal function, well preserved retinal, and normal thickness RPE

      Genotyping Method: N/A

      PreviouslyPublished: 4 other polymorphisms

      Variant: c.839T>C p.Met280Thr Heterozygous

      ClinVar: 1349490

      SupplementalData: see tables 1 for gene variant and found polymorphisms

      InheritancePattern:AutosomalRecessive DiseaseEntity:STGD1 Zygosity:Heterozygous ClinVarID:1349490 MacularFlecks Scotoma FamilyInfo SupplementalData Polymorphisms automated_hgnc:4927 automated_hgnc_source:ClinVar ClinGen ABCA4 Annotations
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    onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1755-3768.2009.01848.x
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Stargardt Disease with Preserved Central Vision: identification of a putative novel mutation in ATP-binding cassette transporter gene
    1
    1. Vibhor 26 Jul 2026
      A 66-year-old man

      Case#: Patient 66yo, M, Japan, Symptoms in teens

      DiseaseAssertion: Stargardt (STGD) Heterozygous, Autosomal recessive

      FamilyInfo: No family with similar symptoms

      CasePresentingHPOs: HP:0008002, HP:0007722, HP:0000610, HP:0000602

      CaseHPOFreeText: Ring shaped paracentral scotoma

      CaseNotHPOs: HP: 0030329, HP:0000608, HP:0000493

      CaseNotHPOFreeText: Well preserved foveal function, well preserved retinal, and normal thickness RPE

      Genotyping Method: N/A

      PreviouslyPublished: 4 other polymorphisms

      Variant: c.839T>C p.Met280Thr Heterozygous

      ClinVar: 1349490

      SupplementalData: see tables 1 for gene variant and found polymorphisms

      InheritancePattern:AutosomalRecessive DiseaseEntity:STGD1 Zygosity:Heterozygous ClinVarID:1349490 scotoma FamilyInfo SupplementalData Polymorphisms automated_hgnc:4927 automated_hgnc_source:ClinVar ClinGen ABCA4 Annotations
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    onlinelibrary.wiley.com/doi/10.1111/j.1755-3768.2009.01848.x