Sixty-six individuals representing 54 families were studied (Supplementary Material, Table S1). All individuals were found to harbor two ABCA4 variants likely to cause the retinal disease (18,20–26). In 40 families (74%), independent segregation of the two alleles was demonstrated. The ages at the time of their first visit ranged from 9 to 74 years (mean = 35.9, median = 35.2 years); in the majority of individuals (36/66=55%), data were available from a second visit that occurred on average 8.7 years (range=2–20 years, median = 6.9 years) after the first visit.
Case#: Patient #35, male, 35yo at report, 14yo at onset,
DiseaseAssertion: STGD
FamilyInfo: family 30, segregation was noted as "yes" but no other details provided
CasePresentingHPOs:
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
GenotypingMethod:
PreviouslyPublished: n/a
Variant: allele 1: A1038V;L541P allele 2: G818E
ClinVar: 99135
CAID: CA227000
SupplementalData: supplemental table 1