Case#: Zhao Case Rp125, N. Ireland

DiseaseAssertion: arRP

FamilyInfo: familial case. affected sister with the same genotype

CasePresentingHPOs:

CaseHPOFreeText: "Retinitis pigmentosa was diagnosed on the basis of the typical fundal features (bone spicule retinal pigmentation, arteriolar attenuation, and optic disc pallor), visual field constriction, and an attenuated or abolished electroretinogram." 7yo at onset. BCVA= CF, HM. ERG findings: extinguished OU

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: Targeted next-generation sequencing using a retinal capture panel to test 55 RP genes and 131 other retinal disease genes. All putative mutations identified by NGS were validated using Sanger sequencing and tested for co-segregation if additional affected family members are available

PreviouslyPublished: n/a

Variant: NM_000350 c..6416G>C p.(Arg2139Pro); c.1519G>T p.(Asp507Tyr)

CAID: CA956878

SupplementalData: table s6, figure s1

Case#: DNAID 072962/Pat272, male

DiseaseAssertion: STGD1

FamilyInfo: n/a

CasePresentingHPOs:

CaseHPOFreeText: "In classic STGD1, loss of central vision starts around the second decade of life, but both early- and late-onset subtypes have been extensively described." No patient-specific details provided

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: smMIPs sequencing of the complete ABCA4 locus

PreviouslyPublished: n/a

Variant: c.6416G>A (p.Arg2139Gln); c.6445C>T (p.Arg2149Ter)

CAID: CA956878

SupplementalData: tables s9 and s11