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    Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front
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    1. Vibhor 19 Sep 2026
      the model would predict foveal disease in the first decade of life for three alleles (P68L;G1961E, L541P;A1038V, and T1019M)

      Case#: Cideciyan Case #86, male, 20.5yo at report

      DiseaseAssertion: "clinical diagnosis within the spectrum of Stargardt disease or cone–rod dystrophy caused by ABCA4 mutations."

      FamilyInfo: Parental segregation of the reported alleles confirmed. P87 is the proband's sibling, affected, same genotype

      CasePresentingHPOs:

      CaseHPOFreeText: LDF eccentricity along principal meridians [deg]: superior=16.9, inferior=11.7, temporal=18.9, inner nasal=9.6, outer nasal=18.9

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: NGS

      PreviouslyPublished: PMID: 24550365

      Variant: c.203 C>T p.Pro68Leuc.5882 G>A p.(Gly1961Glu); c.5882 G>A p.(Gly1961Glu). Phase confirmed.

      ClinVar: 99113

      CAID: CA226972

      SupplementalData: table s1

      CaseInfo Individual SupplementalTable ClinVarID: 99113 CA226972 inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC4572941/