We have located links that may give you full text access.
CASE REPORTS
JOURNAL ARTICLE
CENTRAL ELLIPSOID LOSS ASSOCIATED WITH CONE DYSTROPHY AND KCNV2 MUTATION.
Retinal Cases & Brief Reports 2018 October
PURPOSE: To report a case of central ellipsoid loss with supernormal rod electroretinogram and KCNV2 gene mutation.
METHODS: Retrospective case report.
PATIENT: Thirty-eight-year-old man.
RESULTS: We report a patient with longstanding vision loss and photophobia who illustrated central atrophy of the inner segment ellipsoid zone band on spectral domain optical coherence tomography. Fundus autofluorescence displayed mild perifoveal mottled autofluorescence. Electroretinography demonstrated a diminished rod-isolated response with delayed timing but a normal dark-adapted maximal response to bright flashes. Cone-mediated responses under light-adapted conditions were abnormal with evidence of selective loss of the b wave and a normal a wave consistent with cone dystrophy with supernormal rod electroretinogram. Genetic testing demonstrated a frameshift mutation in the KCNV2 gene.
CONCLUSION: Cone dystrophy with supernormal rod electroretinogram is believed to be a monogenic disease due to KCNV2 gene mutations that affect a transmembrane potassium channel found in rod and cone photoreceptors. We report the multimodal retinal findings associated with a signature electroretinogram in this disorder. Clinicians should consider this rare condition when evaluating patients with central ellipsoid loss and associated cone dystrophy.
METHODS: Retrospective case report.
PATIENT: Thirty-eight-year-old man.
RESULTS: We report a patient with longstanding vision loss and photophobia who illustrated central atrophy of the inner segment ellipsoid zone band on spectral domain optical coherence tomography. Fundus autofluorescence displayed mild perifoveal mottled autofluorescence. Electroretinography demonstrated a diminished rod-isolated response with delayed timing but a normal dark-adapted maximal response to bright flashes. Cone-mediated responses under light-adapted conditions were abnormal with evidence of selective loss of the b wave and a normal a wave consistent with cone dystrophy with supernormal rod electroretinogram. Genetic testing demonstrated a frameshift mutation in the KCNV2 gene.
CONCLUSION: Cone dystrophy with supernormal rod electroretinogram is believed to be a monogenic disease due to KCNV2 gene mutations that affect a transmembrane potassium channel found in rod and cone photoreceptors. We report the multimodal retinal findings associated with a signature electroretinogram in this disorder. Clinicians should consider this rare condition when evaluating patients with central ellipsoid loss and associated cone dystrophy.
Full text links
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app