In this molecular study, we identified a 40-year-old woman diagnosed with STGD in childhood, who had an apparently homozygous pattern for the missense p.Arg1129Leu (c.3386G>T) mutation
Case Annotation Template
Case#: Patient 40, female, Caucasian, onset at 2-3yo, Spain
DiseaseAssertion: STGD
FamilyInfo: Brother and Sister not affected showed heterozygous patterns of (p.His423Arg (c.1268A>G), IVS33+48 C>T) mutations. R1129L mutation heterozygous in the unaffected father; mutation not found in the unaffected mother. Patient has 4yo asymptomatic female child
CasePresentingHPOs: HP:0000505, HP: 0011463, HP:0030786, HP:0007641, HP:0007663, HP: 0000610, HP: 0007814, HP:0000007
CaseHPOFreeText: Macular yellow flecks, macular dystrophy
CaseNotHPOs: N/A
CaseNotHPOFreeText: Normal biomicroscopy
Genotyping Method: Conventional mutational screening on 77 STGD families and screened on the ABCR400 Microarray. Haplotype analyses, HR karyotypes, and MLPA were also performed.
PreviouslyPublished: N/A
Variant: p.Arg1129Leu (c.3386G>T)
CAID: CA227116
SupplementalData:N/A