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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy
    3
    1. Vibhor 26 Jul 2026
      Patient 3

      Case#: 25 year old Female, Sikh, India, Punjab

      DiseaseAssertion: EORSD

      FamilyInfo: Family history for other disease were negative

      CasePresentingHPOs: HP:0007401, HP:0007913

      CaseHPOFreeText: Macular atrophy, scar and pigment OU, plus midperipheral pigmentation OU

      CaseNotHPOs: N/a

      CaseNotHPOFreeText: N/a

      Genotyping Method: BGISeq-500 2 x 100-bp paired-end module, Burrows-Wheeler Aligner and Genome Analysis Tooklit HaploptypeCaller

      PreviouslyPublished: N/a

      Variant: NM_000350.3(ABCA4):c.6729+5_6729+19del

      ClinVar: 283573

      CAID: CA501163

      SupplementalData: Family reported never saw well and had poor vision and nystagmus before the age of one.

      CAID:CA501163 Gene:ABCA4 HGNC:34 InheritancePatter:AutosomalRecessive DiseaseEntity:EOSRD Zygosity:Homozygous ClinVarID:283573 MacularAtrophy ScarAndPigmentOU MidperipheralPigmentationOU automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
    2. Vibhor 26 Jul 2026
      Patient 1

      Case#: German/British, 76

      DiseaseAssertion: EOSRD

      FamilyInfo: Grandparents from Germany and the United Kingdom

      CasePresentingHPOs: HP:0007401, HP:0007913

      CaseHPOFreeText: Macular atrophy and pigmentation, peripheral pigmentation, early-onset severe retinal dystrophy

      CaseNotHPOs: N/a

      CaseNotHPOFreeText: N/a

      Genotyping Method: BGISeq-500 2 x 100-bp paired-end module, Burrows-Wheeler Aligner and Genome Analysis Tooklit HaploptypeCaller

      PreviouslyPublished: n/a

      Variant: c.1622T>C, c.4326C>A, and c.3113C>T

      ClinVar: 99067, 417991, 7894

      CAID: CA226911, CA957653, CA119135

      SupplementalData: The c.1622T>C variants and c.3133C>T are thought to be same gene copy

      CAID:CA226911 CAID:CA957653 CAID:CA119135 Gene:ABCA4 HGNC:34 InheritancePatter:AutosomalRecessive DiseaseEntity:EOSRD Zygosity:Homozygous ClinVarID:99067 ClinVarID:417991 ClinVarID:7894 MacularAtrophy PeripheralPigmentation Early-onsetSeverRetinalDystrophy automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
    3. Vibhor 26 Jul 2026
      Patient 2

      Case#: 39 Year Old Female, India Punjab

      DiseaseAssertion: EORSD

      FamilyInfo: Family history for other disease was negative, husband was first cousin and their son had normal vision

      CasePresentingHPOs: HP:0007401, HP:0007913

      CaseHPOFreeText: Macular atrophy and pigmentation, yellowish flecks

      CaseNotHPOs: N/a

      CaseNotHPOFreeText: N/a

      Genotyping Method: BGISeq-500 2 x 100-bp paired-end module, Burrows-Wheeler Aligner and Genome Analysis Tooklit HaploptypeCaller

      PreviouslyPublished: N/a

      Variant: NM_000350.3(ABCA4):c.6729+5_6729+19del

      ClinVar: 283573

      CAID: CA501163

      SupplementalData: Confirmed that she had never seen properly or normally, marked horizontal nystagmus and poor pupil reaction to light

      CAID:CA501163 Gene:ABCA4 HGNC:34 InheritancePatter:AutosomalRecessive DiseaseEntity:EOSRD Zygosity:Homozygous ClinVarID:283573 MacularAtrophy YellowishFlecks automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC12147048/