Case 3: RP3.03
Case#: RP3.03, 23yo, 21yo on set, Moroccan
DiseaseAssertion: Retinitis Pigmentosa (RP19)
FamilyInfo: Born into a consanguineous family, parents are unaffected, has five unaffected siblings
CasePresentingHPOs: HP:0000505, HP:0007675, HP:0001133, HP:0007994, HP:0007843, HP:0000510, HP:0000580, HP:0007703
CaseHPOFreeText: Abnormal epiretinal membrane formation, Altered ERG traces, rod and cone photoreceptor dysfunctions, hyper fuorescence ring surrounding macula and peripheral retina, absence of cystic spaces
CaseNotHPOs: HP:0000551
CaseNotHPOFreeText: Central vision loss
Genotyping Method: Genomic DNA was extracted using QIAamp DND Blood Mini Kit, DNA underwent WES by BGI Tech Solutions, DNA was captured by MGIEasy Exome Capture V4 Probe Set, then Alligned using the Burrows-Wheeler Aligner and HaplotypeCaller of GAWK
PreviouslyPublished: CRB1, PDE6B
Variant: c.5908C>T, c.6148G>C
ClinVar: 7892, 7884
SupplementalData: Clinical data (table 1, figure 5), Genetic analysis (table 2), Patient Pedigree (figure 1.)