5 Matching Annotations
  1. Sep 2026
  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
    4
    1. Vibhor 27 Sep 2026
      Patient 2 (P2), previously described in a large IRD cohort study [1], is also of Somali origin and was seen in the retina clinic at the University of Iowa at age 11

      Case#: patient, 11, Somali, onset 8yo

      DiseaseAssertion: STGD

      FamilyInfo: parents and four siblings did not report visual issues

      CasePresentingHPOs: HP:0000007, HP:0011504, HP:0000608

      CaseHPOFreeText: BCVA 20/70 OD, 20/80 OS. Bull's eye maculopathy. Outer retinal and RPE atrophy. Slight opacity at level of RPE; loss of outer retinal structures in central area. Normal peripheral retina.

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      Genotyping Method: whole genome

      PreviouslyPublished: PMID:28559085

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

      ClinVar:7888; 7898

      CAID:n/a

      SupplementalData:n/a

      InheritancePattern:AutosomalRecessive DiseaseEntity:IRD DiseaseEntity:STGD1 AlleleOrigin:Germline Zygosity:Homozygous ClinVarID:7888 ClinVarID:7898 Bull’sEyeMaculopathy MacularAtrophy FamilyInfo PreviouslyPublished:28559085 ExperimentalAssay:ABCA4Expression ExperimentalAssay:Autofluorescence inferred_gene_hgnc:34 inferred_gene_source:RefSeq ClinGen ABCA4 Annotations
    2. Vibhor 26 Sep 2026
      Patient 1 (P1

      Case#: 12, Somali, onset 5 years old

      DiseaseAssertion: STGD

      FamilyInfo: Parents were heterozygous for Arg212Cys, no family history of IRD

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

      CaseHPOFreeText: Bull's eye maculopathy, macular degredation, red-green color defecit, reduced cone function

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      Genotyping Method: Whole exome sequencing

      PreviouslyPublished: N/a

      Variant:

      ClinVar: 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 CAID:CA119132 CAID:CA203216 Bull'sEyeMaculopathy MacularAtrophy inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
    3. Vibhor 22 Sep 2026
      Patient 1 (P1) experienced reduced vision from age 5 and was referred to ophthalmology testing at Haukeland University Hospital at age 12.

      Case#: patient, 12, Somali, onset 5yo

      DiseaseAssertion: STGD

      FamilyInfo: parents and 5 siblings did not report visual issues

      CasePresentingHPOs: HP:0000007, HP:0011504, HP:0000608

      CaseHPOFreeText: BCVA 20/135 OD; 20/100 OS. Red-green color deficit. Bull's eye maculopathy, but no pallor of optic disc. Normal peripheral retina. Loss of macular photoreceptor layer; severely reduced cone function.

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      Genotyping Method: whole exome 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: n/a

      SupplementalData: n/a

      InheritancePattern:AutosomalRecessive DiseaseEntity:IRD DiseaseEntity:STGD1 AlleleOrigin:Germline Zygosity:Homozygous ClinVarID:7888 ClinVarID:7898 Bull’sEyeMaculopathy MacularAtrophy FamilyInfo ExperimentalAssay:ABCA4Expression ExperimentalAssay:Autofluorescence inferred_gene_hgnc:34 inferred_gene_source:RefSeq ClinGen ABCA4 Annotations
    4. 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