Case#: 34 y.o female proband, caucasian(German), diagnosed with Stargardt, late onset.

DiseaseAssertion: STGD

FamilyInfo: Unaffected father, mother exhibiting retinal disease. Biparental history of glaucoma and AMD, pattern dystrophy on maternal side.

CasePresentingHPOs:HP:0001129, HP:0007722 ,HP:0007663, HP:0030329, HP:0007814, HP:0000608

CaseHPOFreeText: Proband exhibits retinal thinning in all retinal layers, alongside chorioretinal atrophy. Experienced increased central vision loss over the course of a decade. At time of study, diagnosed with Stargardt disease. Visual acuity 20/200 in right eye and 20/40 in left. Additionally found granular molting of retinal pigment epithilium.

CaseNotHPOs:n/a

CaseNotHPOFreeText:n/a

Genotyping Method: WES and variant calling performed at Columbia Institute for Genomic Medicine.

PreviouslyPublished:n/a

Variant: rs61751407, c.5714+5G>A

ClinVar: 432057

CAID: n/a

SupplementalData: n/a

This variant is well-known in exon 42, [M2]: c.5882G > A; p.(Gly1961Glu), rs1800553. The father of the affected patient was deceased; however, the mother was found to be homozygous for the wild type (WT) allele. According to the ACMG standards, M2 is likely pathogenic.