The third patient was a 27-year-old man who was the son of third-degree consanguineous parents.
Case#: Case 3, male, onset at 24yo, Italy
DiseaseAssertion: STGD1
FamilyInfo: third-degree consanguineous parents; both parents healthy heterozygous carriers of the ABCA4 variant
CasePresentingHPOs: HP:0000529, HP:0007754, HP:0000518
CaseHPOFreeText: progressive deterioration of vision at age 24. Bilateral macular dystrophy and diffuse lens opacities on ophthalmologic examination. OCT, ERG, and VEP consistent with Stargardt maculopathy.
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
Genotyping Method: NGS (custom enrichment panel), Illumina NextSeq550; variant confirmed by Sanger sequencing.
PreviouslyPublished: n/a
Variant: NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln), homozygous; rs1801581
ClinVar: Variation ID: 7913
CAID: n/a
SupplementalData: n/a