We performed diagnostic NGS testing for 537 patients (287 males and 250 females) referred with clinical indications of IRD. All of the 537 individuals were initially referred on a singleton basis.Phenotype classification IRDs have a diverse spectrum of overlapping clinical presentation, which can vary by age of onset, extent of visual impairment, nature of disease progression and involvement of additional clinical features. We grouped all referred patients into 10 distinct clinical classifications (see online supplementary table S3). The most common referral was non-syndromic RCD/RP (n=250). The most common referral of syndromic disease was Usher syndrome (n=38), a disorder characterised by neurosensory hearing loss and visual impairment. There were eight cases of suspected syndromic ciliopathies referred, including seven cases of BBS.
Case#: Case #82863
DiseaseAssertion: CRD
FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: n/a
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
GenotypingMethod: NGS panel of 105 genes
PreviouslyPublished: possible since this is an international cohort
Variant: c.3098delA; c.4139C>T p.(Pro1380Leu)
ClinVar: 236516
CAID: CA10581650
SupplementalData: supplemental table S3 has genotype info and phenotype