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.
1In 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
2) 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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- ‘Cone dystrophy with supranormal rod response’ in children.Br J Ophthalmol. 2012; 96: 422-426
- Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.Ophthalmology. 2013 May 29; ([Epub ahead of print])
© 2013 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.