Patient 1 (P1) experienced reduced vision from age 5 and was referred to ophthalmology testing at Haukeland University Hospital at age 12.
Case#: patient, 12, Somali, onset 5yo
DiseaseAssertion: STGD
FamilyInfo: parents and 5 siblings did not report visual issues
CasePresentingHPOs: HP:0000007, HP:0011504, HP:0000608
CaseHPOFreeText: BCVA 20/135 OD; 20/100 OS. Red-green color deficit. Bull's eye maculopathy, but no pallor of optic disc. Normal peripheral retina. Loss of macular photoreceptor layer; severely reduced cone function.
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
Genotyping Method: whole exome sequencing
PreviouslyPublished: n/a
Variant: NM_000350.3:c.5882G>A p.(Gly1961Glu) ; NM_000350.3:c.634C>T p.(Arg212Cys)
ClinVar: 7888; 7898
CAID: n/a
SupplementalData: n/a