man in hismid-40s
Case#: Male, mid-40s
DiseaseAssertion: STGD1
FamilyInfo: Retinal disease reported in sibling and material grandfather. Mother exhibited decreased visual acuity, BEM in right eye, and tapetal reflex in both eyes.
CasePresentingHPOs: HP:0000622, HP:0000613, HP:0000662, HP:0011504, HP:0007663, HP:0011463
CaseHPOFreeText: n/a
CaseNotHPOs: HP:0007843, HP:0011507
CaseNotHPOFreeText: Autofluorescence(qAF): 381.5. The Case's qAF was noted to be in the range observed in healthy eyes, and also lower than many other STGD1 patients with the same age. There were no flecks, intraretinal pigment migration, retinal vessel attenuation, or optic nerve pallor (Figure 1).
Genotyping Method: Sanger Sequencing
PreviouslyPublished: n/a
Variant: NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys), NM_001034853.2(RPGR):c.3070G>T (p.Glu1024Ter)
ClinVar: 99052, 1275798
SupplementalData: n/a