The proband (K206–2) was 25-years-old
Case#: 25-year old female, juvenile onset
DiseaseAssertion: STGD1
FamilyInfo: Figure 1 shows family pedigree. Table 1 shows clinical features of a Chinese pedigree. Cosegregation analysis was done and shown in Figure 1A, C.
CasePresentingHPOs: HP:0007663, HP:0007722, HP:0007401, HP:0030329, HP:0030610, HP:0003621, HP:0011507, HP:0007984
CaseHPOFreeText: The uncorrected visual acuity of each eye was 20/400, which has progressively decreased for 13 years.
CaseNotHPOs: n/a
CaseNotHPOFreeText: The retinal vessels were normal.
Genotyping Method: Whole Exome Sequencing, Sanger Sequencing
PreviouslyPublished: n/a
Variant: NM_000350.3(ABCA4):c.3523-2A>G, NM_000350.3(ABCA4):c.5646G>A (p.Met1882Ile)
ClinVar: 866764, 377407
SupplementalData: n/a