Hypothesis

23-year-old female with a history of STGD oculus uterque (OU) and severe myopia OU who presented for refractive surgery evaluation. The patient’s STGD was double allele ABCA4 genotype proven with two different mutations, p.Arg2107Cys:c.6319C>T and p.Gly607Arg:c.1819G>A

Case#: Patient 23, Female

DiseaseAssertion: STGD

FamilyInfo: Not evaluated

CasePresentingHPOs: HP:0000609, HP:0012632, HP:0007906

CaseHPOFreeText: The patient also had a history of bilateral optic nerve hypoplasia, labile intraocular pressure (IOP), and ocular hypertension without glaucoma.

CaseNotHPOs: n/a

CaseNotHPOFreeText:n/a

Genotyping Method: Not listed

PreviouslyPublished: n/a

Variant: p.Arg2107Cys:c.6319C>T and p.Gly607Arg:c.1819G>A

ClinVar: 635988, 99087

CAID: CA956906, CA226936

SupplementalData: Phenotype shown in case report with continued treatment below

CAID:CA956906 Gene:ABCA4 HGNC:34 InheritancePatter:AutosomalRecessive DiseaseEntity:STGD1 Zygosity:Homozygous ClinVarID:635988 BilateralOpticNerveHypoplasia LabileIntraocularPressure OcularHypertension CAID:CA226936 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations

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