Author reply

      In response to the correspondence entitled “Recognizing the KCNV2-Related Retinal Phenotype,” we thank Khan et al for the comments that extend and clarify the unique clinical features of cone dystrophy with supranormal rod response (CDSRR) in young children. We would like to take this opportunity to apologize for our oversight in not citing their recent important paper from 2012.
      • Khan A.O.
      • Alrashed M.
      • Alkuraya F.S.
      ‘Cone dystrophy with supranormal rod response’ in children.
      In our cohort, the youngest patient was 14 years old, by which time the characteristic early clinical features (abnormal head posture, head shaking, and nystagmus) have usually resolved. We fully agree (and also emphasized in our paper
      • Zelinger L.
      • Wissinger B.
      • Eli D.
      • et al.
      Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.
      ) with the fact that certain electroretinogram characteristics are very helpful in making the diagnosis and that a delay in rod-response timing should prompt consideration of CDSRR.
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      References

        • Khan A.O.
        • Alrashed M.
        • Alkuraya F.S.
        ‘Cone dystrophy with supranormal rod response’ in children.
        Br J Ophthalmol. 2012; 96: 422-426
        • Zelinger L.
        • Wissinger B.
        • Eli D.
        • et al.
        Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.
        Ophthalmology. 2013 May 29; ([Epub ahead of print])

      Linked Article

      • Recognizing the KCNV2-Related Retinal Phenotype
        OphthalmologyVol. 120Issue 11
        • In Brief
          Zelinger et al1 highlight the KCNV2-related retinal phenotype (“cone dystrophy with supranormal rod response”) as an underdiagnosed condition in the Israeli population. Out of 220 index cases of retinal dysfunction with predominant photopic involvement for whom the authors performed KCNV2 mutation analysis, 5 mutation-positive families were identified—for 2 “cone dystrophy with supranormal rod response” had been diagnosed before genetic testing and for 3 the specific diagnosis had not been suspected.
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