Case#: a 46-year-old male

DiseaseAssertion: Pseudoxanthoma elasticum (PXE)

FamilyInfo: NR

CasePresentingHPOs: HP:0200034, HP:0011506, HP:0001102, HP:0025533, HP:0007401, HP:0200056, HP:0007754, HP:0031526, HP:0007663

CaseHPOFreeText: skin papules, CNV in right eye, angioid steaks, peau d'orange, peripheral comet lesions and macular atrophy at the poseterior pole (more severe in left eye). Juxtafoveal pigmented scar in right eye and fibrotic tissue at the interpapillomacular region in left eye. Pattern dystrophy-like changes were evident at posterior pole. OCT scan showed subretinal fluid with ellipsoid zone abnormalities at the fovea with juxtafoveal hyperreflective alteration corresponding to the fundus scar in the right eye. At the interpapillomacular region, the atrophy of the outer retinal layer and RPE was evident (hypertransmission phenomenon). In left eye, OCT scan showed widespread RPE atrophy with atrophy of the outer retinal layers. 6/10 visual acuity in right eye and 1/20 in left eye.

CaseNotHPOs: NR

CaseNotHPOFreeText: NR

Genotyping Method: Whole exome sequencing analysis focusing on 340 genes associated with the calcification process or inherited retinal diseases

PreviouslyPublished: NR

Variant: c.6647C>T, p.Ala2216Val, NM_000350.3

ClinVar: 236149

CAID: CA10602405

SupplementalData: NR

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.