Journal
JOURNAL OF AAPOS
Volume 17, Issue 6, Pages 641-643Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jaapos.2013.08.006
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Funding
- National Institute for Health Research (UK) Biomedical Research Centre at Moorfields Eye Hospital
- UCL Institute of Ophthalmology Retina Australia
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Visual electrophysiology is an important ancillary investigation in children with poor vision and nystagmus. Cone dystrophy with supranormal rod electroretinogram (KCNV2 retinopathy) has pathognomonic electrophysiology findings that, if identified, direct molecular genetic testing. We report the case of a 6-year-old boy with typical electrophysiology findings of KCNV2 retinopathy but with abnormal cone dysfunction compared to other patients with mutations in KCNV2. Molecular genetic testing revealed complete homozygous deletion of KCNV2. To our knowledge, this is the first such report. The greater cone dysfunction seen in this case suggests a phenotypic link to the genetic changes.
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