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  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports
    1
    1. Vibhor 18 Sep 2026
      Patient 2 (P2)

      Case#: Somali origin, 11 years of age, onset age 8

      DiseaseAssertion: STGD

      FamilyInfo: Parents were heterozygous for Arg212Cys, asymptoamtic 32 year old father was found to be homozygous for Gly1961Glu

      CasePresentingHPOs: HP:0011504, ORPHA:827, HP:0000608

      CaseHPOFreeText: BCVA 20/70 and 20/80, atrophic zone of outer retinal and RPE atrophy, Bull's Eye Maculopathy, Macular atrophy

      CaseNotHPOs: N/a

      CaseNotHPOFreeText: N/a

      Genotyping Method: Whole genome sequencing

      PreviouslyPublished: N/a

      Variant: NM_000350.3:c.5882G>A p.(Gly1961Glu) ; NM_000350.3:c.634C>T p.(Arg212Cys)

      ClinVar: 7888; 7898

      CAID: CA119132, CA203216

      SupplementalData: N/a

      InheritancePatter:AutosomalRecessive DiseaseEntity:STGD1 Zygosity:Homozygous ClinVar:7888 ClinVar:7898 Bull'sEyeMaculopathy MacularAtrophy inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC12503724/
  3. May 2015
  4. shakespeare.mit.edu shakespeare.mit.edu
    Macbeth: Entire Play
    1
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    shakespeare.mit.edu/macbeth/full.html