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.
1
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
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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References
- ‘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])
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© 2013 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.
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- Recognizing the KCNV2-Related Retinal PhenotypeOphthalmologyVol. 120Issue 11
- In BriefZelinger 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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