Case#: a 56-year-old female

DiseaseAssertion: Pseudoxanthoma elasticum (PXE)

FamilyInfo: NR

CasePresentingHPOs: HP:0200034, HP:0001102, HP:0025533, HP:0011506, HP:0500087

CaseHPOFreeText: Papules on neck and axillae, marked skin laxity and redundance in neck, axillae, periumbilican area, groyne, and inner thighs, angioid streaks, peau d'orange. In right eye, a CNV, a large peripapillary atrophy, a small iuxafoveal scar, and RPE-Bruch's membrane complex normalities nasally to the fovea.

CaseNotHPOs: NR

CaseNotHPOFreeText: NR

Genotyping Method: Next generation sequencing focusing on 362 genes associated with calcification-related diseases and inherited retinal diseases

PreviouslyPublished: NR

Variant: c.1928T>G, p.Val643Gly, NM_000350.3

ClinVar: 99102

CAID: CA226958

SupplementalData: This variant has been reported likely pathogenic in VarSome and literature.