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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
    1
    1. Vibhor 26 Jul 2026
      Case 3

      Case#:3, 34–year-old woman

      DiseaseAssertion:NR

      FamilyInfo: no family history of an ocular disease

      CasePresentingHPOs: HP:0007663, HP:0030506, HP:0030528, HP:0000603

      CaseHPOFreeText:bilateral markedly decreased vision (logMar BCVA OD:0.93, OS:0.95), bilateral atrophic lesions of the macula accompanied by yellow-white stellate flecks at the level of the retinal pigment epithelium, Atrophic lesions and flecks were also extending to the mid-periphery of both retinae, bilateral absolute central scotoma and relative paracentral scotomas as well in both eyes, PERG was significantly reduced, while scotopic and photopic amplitudes were also lower than normal.

      CaseNotHPOs:

      CaseNotHPOFreeText:NR

      Genotyping Method: “Analysis of the ABCA4 gene”

      PreviouslyPublished: No

      Variant: NM_000350.3:c.5882G>A, NM_000350.3:c.6709dup

      ClinVar: ​​7888, 99485

      CAID: CA119132, CA227437

      SupplementalData:

      Zygosity:NoZygosityAssertion “MultipleGeneVariants” ClinVarID:7888 CAID:CA119132 ClinVarID:88485 CAID:CA227437 Scotoma automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC3831132/