Case#: Pt 7, male, 60yo at report, onset between 6-49yo, Irish

DiseaseAssertion: Stargardt

FamilyInfo: family 5

CasePresentingHPOs:

CaseHPOFreeText: VA: OD=6/36 OS=6/120, FAF and OCT in figure 2, FAF WRT vascular arcades=beyond, beaten bronze appearance, yellow flecks centrally, peripapillary sparing, central retinal thickness: OD=100 microns OS=117 microns, optical coherence tomography (OCT) atrophy horizontal width: OD=6000 microns OS=5446 microns

CaseNotHPOs:

CaseNotHPOFreeText: bulls eye pattern, flecks peripherally

GenotypingMethod: Target capture NGS of the exons and known pathogenic intronic regions of ABCA4, whole-gene single molecule molecular inversion probe (smMIP) based sequencing of ABCA4 as well as 40 kb of flanking sequence, direct Sanger sequencing, or WGS

PreviouslyPublished: n/a

Variant: c.4539 + 2028C > T p.[= ,Arg1514Leufs*36]; c.2453G> A p.(Gly818Glu)

ClinVar: 99135; 236116

CAID: CA227000; CA10576057

SupplementalData: n/a