A 19-year-old female
Case#: 19 year old woman
DiseaseAssertion: Stargardt disease (STGD)
FamilyInfo: no family history of ocular disease
CasePresentingHPOs:HP:0025158
CaseHPOFreeText:20/25 in the right eye and 20/25-1 in the left eye, small irregular perifoveal lesions of both increased and decreased autofluorescence
CaseNotHPOs:na
CaseNotHPOFreeText:na
Genotyping Method: next gen sequencing
PreviouslyPublished: na
Variant: c.6079C > T, p.(Leu2027Phe) c.4139C > T, p.(Pro1380Leu)
ClinVar: not found not found
CAID: not found not found
SupplementalData: “black shadow” in the right eye after getting hit by a volley ball