Table 1

Patients with full genomic data and associated type of retinal detachment and comorbidities

Type of detachmentGeneBase changeAA changeAssociated comorbiditiesSurgery outcomes
ExudativeEYSc.6137G>Ap.Trp2046TerCryotherapy x1
ExudativeNRLc.148T>Ap.Ser50ThrCryotherapy x1
ExudativePRPF31c.356C>Tp.S119XMyopiaCryotherapy x1
ExudativeRDH12No surgical data
ExudativeUSH2ALarge deletion EX 50–55Cryotherapy x1
Exudative and tractionalCRB1c.3879–1203C>Gp.R764CCryotherapy x1
Exudative and tractionalCRB1c.3074G>Ap.S1025ACryotherapy x1, progressed—inoperable
RhegmatogenousBEST1c.682G>Ap.(Asp228Asn)MyopiaSuccessful reattachment after x1 PPV
RhegmatogenousFAM161Ac.1309A>Tp.Arg437TerDivergent squintSuccessful reattachment after x1 PPV
RhegmatogenousIMPG2c.2928delCp.(ALa1011Phefs)Truama—ruptured globe—total RD—inoperable
RhegmatogenousMYO7Ac.977 T>ALeu326GlnSuccessful reattachment after x1 PPV
RhegmatogenousMYO7Ac.2914C>TArg972XHearing lossSuccessful cryotherapy/buckle
RhegmatogenousMYO7Ac.3719G>AArg1240GlnHearing lossX3 PPV—failed surgery—detached under oil
RhegmatogenousNR2E3IVS1-2Buckle—failure
RhegmatogenousRP2c.852delAp.Ala285HisfsTer8MyopiaNo surgical data
RhegmatogenousRPGRg.ORF15+652_653delAGMacular disciform scar
Myopia
Successful reattachment after x1 PPV
RhegmatogenousRPGRMyopiaSuccessful reattachment after x1 PPV
RhegmatogenousUSH2Ac.1328+36_39delGATTHearing lossSuccessful reattachment after x1 PPV
RhegmatogenousUSH2Ac.2299delGGlu767serfsX21Hearing lossSuccessful reattachment after combined PPV/buckle
RhegmatogenousUSH2Ac.1328+36_39delGATTHearing lossSuccessful reattachment after x1 PPV
RhegmatogenousUSH2Ac.5776+1G>AHearing lossSuccessful reattachment after combined PPV/buckle
RhegmatogenousUSH2Ac.3737dupTp.Ser1247LysfsTer4No surgical data available
Rhematogenous and tractionalRP1c.2596_2597deITTSuccessful reattachment after combined PPV/buckle
  • AA, amino acid; PPV, pars plana vitrectomy ; RD, retinal detachment.