Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Omar A Mahroo, Nikolas Pontikos, Maurício E Vargas, Alberta A H J Thiadens, Emanuel R de Carvalho, Xuan-Than-An Nguyen, Gavin Arno, Yu Fujinami-Yokokawa, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Belén Jiménez-Rolando, Maria Inmaculada Martin-Merida, Almudena Avila-Fernandez, Ester Carreño Salas, Blanca Garcia-Sandoval, Carmen Ayuso, Dror Sharon, Susanne Kohl, Rachel M Huckfeldt, Eyal Banin, Mark E Pennesi, Arif O Khan, Bernd Wissinger, Andrew R Webster, Elise Heon, Camiel J F Boon, Eberhard Zrenner, Michel Michaelides
{"title":"KCNV2相关视网膜病变:基因型-表型相关性-KCNV2研究组报告3。","authors":"Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Omar A Mahroo, Nikolas Pontikos, Maurício E Vargas, Alberta A H J Thiadens, Emanuel R de Carvalho, Xuan-Than-An Nguyen, Gavin Arno, Yu Fujinami-Yokokawa, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Belén Jiménez-Rolando, Maria Inmaculada Martin-Merida, Almudena Avila-Fernandez, Ester Carreño Salas, Blanca Garcia-Sandoval, Carmen Ayuso, Dror Sharon, Susanne Kohl, Rachel M Huckfeldt, Eyal Banin, Mark E Pennesi, Arif O Khan, Bernd Wissinger, Andrew R Webster, Elise Heon, Camiel J F Boon, Eberhard Zrenner, Michel Michaelides","doi":"10.1136/bjo-2023-323640","DOIUrl":null,"url":null,"abstract":"<p><strong>Background/aims: </strong>To investigate genotype-phenotype associations in patients with <i>KCNV2</i> retinopathy.</p><p><strong>Methods: </strong>Review of clinical notes, best-corrected visual acuity (BCVA), molecular variants, electroretinography (ERG) and retinal imaging. Subjects were grouped according to the combination of <i>KCNV2</i> variants-two loss-of-function (TLOF), two missense (TM) or one of each (MLOF)-and parameters were compared.</p><p><strong>Results: </strong>Ninety-two patients were included. The mean age of onset (mean±SD) in TLOF (n=55), TM (n=23) and MLOF (n=14) groups was 3.51±0.58, 4.07±2.76 and 5.54±3.38 years, respectively. The mean LogMAR BCVA (±SD) at baseline in TLOF, TM and MLOF groups was 0.89±0.25, 0.67±0.38 and 0.81±0.35 for right, and 0.88±0.26, 0.69±0.33 and 0.78±0.33 for left eyes, respectively. The difference in BCVA between groups at baseline was significant in right (p=0.03) and left eyes (p=0.035). Mean outer nuclear layer thickness (±SD) at baseline in TLOF, MLOF and TM groups was 37.07±15.20 µm, 40.67±12.53 and 40.38±18.67, respectively, which was not significantly different (p=0.85). The mean ellipsoid zone width (EZW) loss (±SD) was 2051 µm (±1318) for patients in the TLOF, and 1314 µm (±965) for MLOF. Only one patient in the TM group had EZW loss at presentation. There was considerable overlap in ERG findings, although the largest DA 10 ERG b-waves were associated with TLOF and the smallest with TM variants.</p><p><strong>Conclusions: </strong>Patients with missense alterations had better BCVA and greater structural integrity. This is important for patient prognostication and counselling, as well as stratification for future gene therapy trials.</p>","PeriodicalId":9313,"journal":{"name":"British Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":3.7000,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11287651/pdf/","citationCount":"0","resultStr":"{\"title\":\"<i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3.\",\"authors\":\"Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Omar A Mahroo, Nikolas Pontikos, Maurício E Vargas, Alberta A H J Thiadens, Emanuel R de Carvalho, Xuan-Than-An Nguyen, Gavin Arno, Yu Fujinami-Yokokawa, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Belén Jiménez-Rolando, Maria Inmaculada Martin-Merida, Almudena Avila-Fernandez, Ester Carreño Salas, Blanca Garcia-Sandoval, Carmen Ayuso, Dror Sharon, Susanne Kohl, Rachel M Huckfeldt, Eyal Banin, Mark E Pennesi, Arif O Khan, Bernd Wissinger, Andrew R Webster, Elise Heon, Camiel J F Boon, Eberhard Zrenner, Michel Michaelides\",\"doi\":\"10.1136/bjo-2023-323640\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background/aims: </strong>To investigate genotype-phenotype associations in patients with <i>KCNV2</i> retinopathy.</p><p><strong>Methods: </strong>Review of clinical notes, best-corrected visual acuity (BCVA), molecular variants, electroretinography (ERG) and retinal imaging. Subjects were grouped according to the combination of <i>KCNV2</i> variants-two loss-of-function (TLOF), two missense (TM) or one of each (MLOF)-and parameters were compared.</p><p><strong>Results: </strong>Ninety-two patients were included. The mean age of onset (mean±SD) in TLOF (n=55), TM (n=23) and MLOF (n=14) groups was 3.51±0.58, 4.07±2.76 and 5.54±3.38 years, respectively. The mean LogMAR BCVA (±SD) at baseline in TLOF, TM and MLOF groups was 0.89±0.25, 0.67±0.38 and 0.81±0.35 for right, and 0.88±0.26, 0.69±0.33 and 0.78±0.33 for left eyes, respectively. The difference in BCVA between groups at baseline was significant in right (p=0.03) and left eyes (p=0.035). Mean outer nuclear layer thickness (±SD) at baseline in TLOF, MLOF and TM groups was 37.07±15.20 µm, 40.67±12.53 and 40.38±18.67, respectively, which was not significantly different (p=0.85). The mean ellipsoid zone width (EZW) loss (±SD) was 2051 µm (±1318) for patients in the TLOF, and 1314 µm (±965) for MLOF. Only one patient in the TM group had EZW loss at presentation. There was considerable overlap in ERG findings, although the largest DA 10 ERG b-waves were associated with TLOF and the smallest with TM variants.</p><p><strong>Conclusions: </strong>Patients with missense alterations had better BCVA and greater structural integrity. This is important for patient prognostication and counselling, as well as stratification for future gene therapy trials.</p>\",\"PeriodicalId\":9313,\"journal\":{\"name\":\"British Journal of Ophthalmology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.7000,\"publicationDate\":\"2024-07-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11287651/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"British Journal of Ophthalmology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1136/bjo-2023-323640\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"British Journal of Ophthalmology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1136/bjo-2023-323640","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
Background/aims: To investigate genotype-phenotype associations in patients with KCNV2 retinopathy.
Methods: Review of clinical notes, best-corrected visual acuity (BCVA), molecular variants, electroretinography (ERG) and retinal imaging. Subjects were grouped according to the combination of KCNV2 variants-two loss-of-function (TLOF), two missense (TM) or one of each (MLOF)-and parameters were compared.
Results: Ninety-two patients were included. The mean age of onset (mean±SD) in TLOF (n=55), TM (n=23) and MLOF (n=14) groups was 3.51±0.58, 4.07±2.76 and 5.54±3.38 years, respectively. The mean LogMAR BCVA (±SD) at baseline in TLOF, TM and MLOF groups was 0.89±0.25, 0.67±0.38 and 0.81±0.35 for right, and 0.88±0.26, 0.69±0.33 and 0.78±0.33 for left eyes, respectively. The difference in BCVA between groups at baseline was significant in right (p=0.03) and left eyes (p=0.035). Mean outer nuclear layer thickness (±SD) at baseline in TLOF, MLOF and TM groups was 37.07±15.20 µm, 40.67±12.53 and 40.38±18.67, respectively, which was not significantly different (p=0.85). The mean ellipsoid zone width (EZW) loss (±SD) was 2051 µm (±1318) for patients in the TLOF, and 1314 µm (±965) for MLOF. Only one patient in the TM group had EZW loss at presentation. There was considerable overlap in ERG findings, although the largest DA 10 ERG b-waves were associated with TLOF and the smallest with TM variants.
Conclusions: Patients with missense alterations had better BCVA and greater structural integrity. This is important for patient prognostication and counselling, as well as stratification for future gene therapy trials.
期刊介绍:
The British Journal of Ophthalmology (BJO) is an international peer-reviewed journal for ophthalmologists and visual science specialists. BJO publishes clinical investigations, clinical observations, and clinically relevant laboratory investigations related to ophthalmology. It also provides major reviews and also publishes manuscripts covering regional issues in a global context.