Case#: An 8-year old Hispanic female

DiseaseAssertion: Whole exome sequencing identified a homozygous ABCA4 missense variant (p.Arg602Trp) that has been identified as a Stargardt Disease mutation

FamilyInfo: consanguinity, her parents being first cousins, no family history of blindness. Familial cosegregation analysis was used, with both parents being heterozygous carriers.

CasePresentingHPOs: HP:0000529, HP:0000662, HP:0000556, HP:0002017,HP:0008046, HP:0031528, HP:0003678

CaseHPOFreeText: rapidly progressive vision loss, nyctalopia and retinal dystrophy, bilateral decreased vision following a febrile gastrointestinal illness with nausea and vomiting, Initial visual acuity was 20/60 at distance and 20/30 at near in both eyes, after 2 years visual acuities of 20/200 at distance in both eyes, attenuated vessels and multiple subretinal blister-like elevations, Cycloplegic retinoscopy detected very mild hyperopia and astigmatism in both eyes (OD: + 1.00 sphere + 1.00 cylinder axis 110 degrees; OS: + 0.75 sphere + 0.50 cylinder axis 60 degrees)

CaseNotHPOs: NR

CaseNotHPOFreeText: no evidence of a diffuse post-infectious/inflammatory process

Genotyping Method: DNA analysis by whole exomic sequencing

PreviouslyPublished: No

Variant: NM_000350.3:c.1804C>T

ClinVar:99084

CAID:CA226932

SupplementalData: