PURPOSE: The purpose of this study was to characterize the clinical, electrophysiologic, and genetic features in "cone dystrophy with supernormal rod electroretinogram (ERG)." METHODS: Twenty-four cases between 5 and 59 years of age were ascertained. Full-field ERGs, incorporating the international standards, were used to derive intensity-ERG response functions. ON-OFF ERGs were performed. Fundus autofluorescence imaging was performed on 15 subjects. Deoxyribonucleic acid was available in 18 cases and was screened for a mutation in KCNV2. RESULTS: Photophobia and nyctalopia were common. Autofluorescence was variable but often showed a ring-like area of high density that in middle-aged individuals, usually surrounded by an area of macular retinal pigment epithelial atrophy. Scotopic ERG amplitudes overlapped with the normal range but had characteristic a- and b-wave intensity-response functions; all had a broadened a-wave to the brightest flash. Photopic ERGs were abnormal; there was a delay in some ON and most OFF responses. Mutations in KCNV2 were detected in 18 cases, including 4 with novel mutations. CONCLUSION: Individuals with mutations in KCNV2 manifest a wide range of macular and autofluorescence abnormalities. A ring-like area of parafoveal high density autofluorescence is common. ERG amplitudes are variable, but the intensity-ERG response functions and bright flash ERG waveforms are pathognomonic.
PURPOSE: The purpose of this study was to characterize the clinical, electrophysiologic, and genetic features in "cone dystrophy with supernormal rod electroretinogram (ERG)." METHODS: Twenty-four cases between 5 and 59 years of age were ascertained. Full-field ERGs, incorporating the international standards, were used to derive intensity-ERG response functions. ON-OFF ERGs were performed. Fundus autofluorescence imaging was performed on 15 subjects. Deoxyribonucleic acid was available in 18 cases and was screened for a mutation in KCNV2. RESULTS:Photophobia and nyctalopia were common. Autofluorescence was variable but often showed a ring-like area of high density that in middle-aged individuals, usually surrounded by an area of macular retinal pigment epithelial atrophy. Scotopic ERG amplitudes overlapped with the normal range but had characteristic a- and b-wave intensity-response functions; all had a broadened a-wave to the brightest flash. Photopic ERGs were abnormal; there was a delay in some ON and most OFF responses. Mutations in KCNV2 were detected in 18 cases, including 4 with novel mutations. CONCLUSION: Individuals with mutations in KCNV2 manifest a wide range of macular and autofluorescence abnormalities. A ring-like area of parafoveal high density autofluorescence is common. ERG amplitudes are variable, but the intensity-ERG response functions and bright flash ERG waveforms are pathognomonic.
Authors: Tamara Lee Lenis; Elona Dhrami-Gavazi; Winston Lee; Sri Krishna Mukkamala; Mirela Raluca Tabacaru; Lawrence Yannuzzi; Peter Gouras; Stephen H Tsang Journal: JAMA Ophthalmol Date: 2013-11 Impact factor: 7.389
Authors: Frederick T Collison; Jason C Park; Gerald A Fishman; Edwin M Stone; J Jason McAnany Journal: Doc Ophthalmol Date: 2019-03-29 Impact factor: 2.379
Authors: Katie E Smith; Susan E Wilkie; Joseph T Tebbs-Warner; Bradley J Jarvis; Linn Gallasch; Martin Stocker; David M Hunt Journal: J Biol Chem Date: 2012-10-31 Impact factor: 5.157
Authors: Michalis Georgiou; Anthony G Robson; Kaoru Fujinami; Shaun M Leo; Ajoy Vincent; Fadi Nasser; Thales Antônio Cabral De Guimarães; Samer Khateb; Nikolas Pontikos; Yu Fujinami-Yokokawa; Xiao Liu; Kazushige Tsunoda; Takaaki Hayashi; Mauricio E Vargas; Alberta A H J Thiadens; Emanuel R de Carvalho; Xuan-Thanh-An Nguyen; Gavin Arno; Omar A Mahroo; Maria Inmaculada Martin-Merida; Belen Jimenez-Rolando; Gema Gordo; Ester Carreño; Ayuso Carmen; Dror Sharon; Susanne Kohl; Rachel M Huckfeldt; Bernd Wissinger; Camiel J F Boon; Eyal Banin; Mark E Pennesi; Arif O Khan; Andrew R Webster; Eberhart Zrenner; Elise Héon; Michel Michaelides Journal: Am J Ophthalmol Date: 2020-12-11 Impact factor: 5.258