The proposita (II:2), a 62-year-old woman,
Case#: Patient 62, female, Caucasian, onset at 40yo, Italy
DiseaseAssertion: STGD
FamilyInfo: co-segregation of variant in 2 affected siblings, unaffected children heterozygous or wild-type
CasePresentingHPOs: HP:0007754, HP:0000608, HP:0000548, HP:0000551, HP:0000510, HP:0000559
CaseHPOFreeText: macular atrophy OU, perifoveal and peripheral fundus flecks OU, RPE changes, thinning of outer nuclear layer OU, BCVA: 20/25 OD/OS, normal intraocular pressure, myopic refraction -3.50 sph -1 cyl, normal rod–cone and cone ERGs
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
Genotyping Method: WES with phenotype-driven filtering, variant confirmed by Sanger sequencing, segregation analysis performed, functional minigene splicing assay
PreviouslyPublished: n/a
Variant: RDH8 NM_015725.4 c.262+1G>A homozygous
ClinVar: SUB13728545
CAID: n/a
SupplementalData: phenotype and segregation info in supplemental data (Table S1, Figures S1–S5)