Case#: Liu Proband A034, Chinese, female

DiseaseAssertion: Stargardt

FamilyInfo: Mother has the Pro68Leu variant, but the father was not genotyped to know the phase of the second variant. Proband's daughter also has the Pro68Leu variant, but is unaffected.

CasePresentingHPOs:

CaseHPOFreeText: no individual details provided

CaseNotHPOs:

CaseNotHPOFreeText: patients with other ocular diseases, such as choroidal neovascularization, glaucoma, and diabetic retinopathy, or were undergoing treatments/therapeutic trials were excluded.

GenotypingMethod: Either eye gene-enriched (from 36 to 450 target genes) panel-based next-generation sequencing (NGS). Sanger bi-directional sequencing was conducted to confirm the rare candidate variants (allele frequency: less than 1.0% of the general population) and to perform the co-segregation analysis

PreviouslyPublished: n/a

Variant: c.203C>T p.(Pro68Leu); c.3883_3884del p.(Glu1295Lysfs*126)

ClinVar: 99113

CAID: CA226972

SupplementalData: S1 only provides group demographics for the different clinical classifications (fundus grade, FAF type, etc)

Case#: Cideciyan Case #86, male, 20.5yo at report

DiseaseAssertion: "clinical diagnosis within the spectrum of Stargardt disease or cone–rod dystrophy caused by ABCA4 mutations."

FamilyInfo: Parental segregation of the reported alleles confirmed. P87 is the proband's sibling, affected, same genotype

CasePresentingHPOs:

CaseHPOFreeText: LDF eccentricity along principal meridians [deg]: superior=16.9, inferior=11.7, temporal=18.9, inner nasal=9.6, outer nasal=18.9

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: NGS

PreviouslyPublished: PMID: 24550365

Variant: c.203 C>T p.Pro68Leuc.5882 G>A p.(Gly1961Glu); c.5882 G>A p.(Gly1961Glu). Phase confirmed.

ClinVar: 99113

CAID: CA226972

SupplementalData: table s1