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Page 1
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, Verhoeven VJ, Pott JW, Sallevelt SC, van Hagen JM, Plomp AS, Kroes HY, Lelieveld SH, Hehir-Kwa JY, Castelein S, Nelen M, Scheffer H, Lugtenberg D, Cremers FP, Hoefsloot L, Yntema HG. Haer-Wigman L, et al. Eur J Hum Genet. 2017 May;25(5):591-599. doi: 10.1038/ejhg.2017.9. Epub 2017 Feb 22. Eur J Hum Genet. 2017. PMID: 28224992 Free PMC article.
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ. Verbakel SK, et al. Among authors: boon cjf. Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27. Prog Retin Eye Res. 2018. PMID: 29597005 Free article. Review.
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Balfoort BM, Buijs MJN, Ten Asbroek ALMA, Bergen AAB, Boon CJF, Ferreira EA, Houtkooper RH, Wagenmakers MAEM, Wanders RJA, Waterham HR, Timmer C, van Karnebeek CD, Brands MM. Balfoort BM, et al. Among authors: boon cjf. Mol Genet Metab. 2021 Sep-Oct;134(1-2):96-116. doi: 10.1016/j.ymgme.2021.07.010. Epub 2021 Jul 26. Mol Genet Metab. 2021. PMID: 34340878 Free article. Review.
The retinal pigmentation pathway in human albinism: Not so black and white.
Bakker R, Wagstaff EL, Kruijt CC, Emri E, van Karnebeek CDM, Hoffmann MB, Brooks BP, Boon CJF, Montoliu L, van Genderen MM, Bergen AA. Bakker R, et al. Among authors: boon cjf. Prog Retin Eye Res. 2022 Nov;91:101091. doi: 10.1016/j.preteyeres.2022.101091. Epub 2022 Jun 18. Prog Retin Eye Res. 2022. PMID: 35729001 Free article. Review.
Vision on gyrate atrophy: why treat the eye?
Bergen AA, Buijs MJ, Ten Asbroek AL, Balfoort BM, Boon CJ; Dutch GACR “Bird’s Eye View” Consortium; Brands MM, Wanders RJ, van Karnebeek CD, Houtkooper RH. Bergen AA, et al. EMBO Mol Med. 2024 Jan;16(1):4-7. doi: 10.1038/s44321-023-00001-1. Epub 2023 Dec 14. EMBO Mol Med. 2024. PMID: 38177529 Free PMC article.
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).
Balfoort BM, Van Den Broeck F, Brands MM, van Karnebeek CD, Bergen AA, van den Born LI, Houtkooper RH, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Boon CJF, Diederen RMH. Balfoort BM, et al. Among authors: boon cjf. Graefes Arch Clin Exp Ophthalmol. 2024 Nov;262(11):3589-3596. doi: 10.1007/s00417-024-06540-8. Epub 2024 Jun 7. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38847892 Free PMC article.
Syndromic Retinitis Pigmentosa.
Karuntu JS, Almushattat H, Nguyen XT, Plomp AS, Wanders RJA, Hoyng CB, van Schooneveld MJ, Schalij-Delfos NE, Brands MM, Leroy BP, van Karnebeek CDM, Bergen AA, van Genderen MM, Boon CJF. Karuntu JS, et al. Among authors: boon cjf. Prog Retin Eye Res. 2024 Dec 27:101324. doi: 10.1016/j.preteyeres.2024.101324. Online ahead of print. Prog Retin Eye Res. 2024. PMID: 39733931 Free article. Review.
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
Balfoort BM, Van den Broeck F, Boon CJF, Brouwers MCGJ, Diederen RMH, Dhillon P; GACR “Bird's Eye View” Consortium; van Hasselt PM, Jaeger B, Karuntu JS, Rennings AJM, van Spronsen FJ, Timmer C, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Schulze A, van Karnebeek CD, Brands MM. Balfoort BM, et al. Among authors: boon cjf. J Inherit Metab Dis. 2025 Jan;48(1):e12842. doi: 10.1002/jimd.12842. J Inherit Metab Dis. 2025. PMID: 39761806 Free PMC article.
Central areolar choroidal dystrophy.
Boon CJ, Klevering BJ, Cremers FP, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB. Boon CJ, et al. Ophthalmology. 2009 Apr;116(4):771-82, 782.e1. doi: 10.1016/j.ophtha.2008.12.019. Epub 2009 Feb 25. Ophthalmology. 2009. PMID: 19243827
The spectrum of phenotypes caused by variants in the CFH gene.
Boon CJ, van de Kar NC, Klevering BJ, Keunen JE, Cremers FP, Klaver CC, Hoyng CB, Daha MR, den Hollander AI. Boon CJ, et al. Mol Immunol. 2009 May;46(8-9):1573-94. doi: 10.1016/j.molimm.2009.02.013. Epub 2009 Mar 17. Mol Immunol. 2009. PMID: 19297022 Review.
Clinical and genetic characteristics of late-onset Stargardt's disease.
Westeneng-van Haaften SC, Boon CJ, Cremers FP, Hoefsloot LH, den Hollander AI, Hoyng CB. Westeneng-van Haaften SC, et al. Ophthalmology. 2012 Jun;119(6):1199-210. doi: 10.1016/j.ophtha.2012.01.005. Epub 2012 Mar 24. Ophthalmology. 2012. PMID: 22449572
A functional variant in the CFI gene confers a high risk of age-related macular degeneration.
van de Ven JP, Nilsson SC, Tan PL, Buitendijk GH, Ristau T, Mohlin FC, Nabuurs SB, Schoenmaker-Koller FE, Smailhodzic D, Campochiaro PA, Zack DJ, Duvvari MR, Bakker B, Paun CC, Boon CJ, Uitterlinden AG, Liakopoulos S, Klevering BJ, Fauser S, Daha MR, Katsanis N, Klaver CC, Blom AM, Hoyng CB, den Hollander AI. van de Ven JP, et al. Nat Genet. 2013 Jul;45(7):813-7. doi: 10.1038/ng.2640. Epub 2013 May 19. Nat Genet. 2013. PMID: 23685748
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Hahn LC, van Schooneveld MJ, Wesseling NL, Florijn RJ, Ten Brink JB, Lissenberg-Witte BI, Strubbe I, Meester-Smoor MA, Thiadens AA, Diederen RM, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Klaver CCW, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, van Genderen MM, Sieving PA, Leroy BP, Bergen AA, Boon CJF. Hahn LC, et al. Among authors: boon cjf. Ophthalmology. 2022 Feb;129(2):191-202. doi: 10.1016/j.ophtha.2021.09.021. Epub 2021 Oct 6. Ophthalmology. 2022. PMID: 34624300 Free article.
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF. Hahn LC, et al. Among authors: boon cjf. Ophthalmol Retina. 2022 Aug;6(8):711-722. doi: 10.1016/j.oret.2022.03.008. Epub 2022 Mar 18. Ophthalmol Retina. 2022. PMID: 35314386 Free article.
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT, van den Born LI, Vermeer M, Iglesias Gonzales AI, Hoyng CB, Pott JWR, Kroes HY, van Schooneveld MJ, Boon CJF, van Genderen MM, Plomp AS, de Jong-Hesse Y, van Egmond-Ebbeling MB, Hoefsloot LH, A Bergen A, Klaver CCW, Meester-Smoor MA, Thiadens AAHJ, Verhoeven VJM. Heutinck PAT, et al. Among authors: boon cjf. Invest Ophthalmol Vis Sci. 2024 Aug 1;65(10):40. doi: 10.1167/iovs.65.10.40. Invest Ophthalmol Vis Sci. 2024. PMID: 39189993 Free PMC article.
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, … See abstract for full author list ➔ Quinodoz M, et al. Among authors: boon cjf. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
Cuticular drusen: stars in the sky.
Boon CJ, van de Ven JP, Hoyng CB, den Hollander AI, Klevering BJ. Boon CJ, et al. Prog Retin Eye Res. 2013 Nov;37:90-113. doi: 10.1016/j.preteyeres.2013.08.003. Epub 2013 Sep 9. Prog Retin Eye Res. 2013. PMID: 24028794 Review.
Macular dystrophies mimicking age-related macular degeneration.
Saksens NT, Fleckenstein M, Schmitz-Valckenberg S, Holz FG, den Hollander AI, Keunen JE, Boon CJ, Hoyng CB. Saksens NT, et al. Prog Retin Eye Res. 2014 Mar;39:23-57. doi: 10.1016/j.preteyeres.2013.11.001. Epub 2013 Nov 28. Prog Retin Eye Res. 2014. PMID: 24291520 Review.
Foveal sparing in Stargardt disease.
van Huet RA, Bax NM, Westeneng-Van Haaften SC, Muhamad M, Zonneveld-Vrieling MN, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB. van Huet RA, et al. Invest Ophthalmol Vis Sci. 2014 Oct 16;55(11):7467-78. doi: 10.1167/iovs.13-13825. Invest Ophthalmol Vis Sci. 2014. PMID: 25324290
Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.
Duvvari MR, van de Ven JP, Geerlings MJ, Saksens NT, Bakker B, Henkes A, Neveling K, del Rosario M, Westra D, van den Heuvel LP, Schick T, Fauser S, Boon CJ, Hoyng CB, de Jong EK, den Hollander AI. Duvvari MR, et al. PLoS One. 2016 Mar 23;11(3):e0152047. doi: 10.1371/journal.pone.0152047. eCollection 2016. PLoS One. 2016. PMID: 27007659 Free PMC article.
Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?
Hendriks M, Verhoeven VJM, Buitendijk GHS, Polling JR, Meester-Smoor MA, Hofman A; RD5000 Consortium; Kamermans M, Ingeborgh van den Born L, Klaver CCW. Hendriks M, et al. Am J Ophthalmol. 2017 Oct;182:81-89. doi: 10.1016/j.ajo.2017.07.008. Epub 2017 Jul 25. Am J Ophthalmol. 2017. PMID: 28751151 Free article.
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL, van Dijk EHC, Breukink MB, Keunen JEE, Santen GWE, Hoyng CB, de Jong EK, Boon CJF, den Hollander AI. Schellevis RL, et al. Among authors: boon cjf. Mol Genet Genomic Med. 2019 Apr;7(4):e00576. doi: 10.1002/mgg3.576. Epub 2019 Feb 6. Mol Genet Genomic Med. 2019. PMID: 30724488 Free PMC article.
The Ocular Phenotype in Primary Hyperoxaluria Type 1.
Birtel J, Herrmann P, Garrelfs SF, Dulz S, Atiskova Y, Diederen RM, Gliem M, Brinkert F, Holz FG, Boon CJF, Hoppe B, Charbel Issa P. Birtel J, et al. Among authors: boon cjf. Am J Ophthalmol. 2019 Oct;206:184-191. doi: 10.1016/j.ajo.2019.04.036. Epub 2019 May 10. Am J Ophthalmol. 2019. PMID: 31078535
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Peeters MHCA, Khan M, Rooijakkers AAMB, Mulders T, Haer-Wigman L, Boon CJF, Klaver CCW, van den Born LI, Hoyng CB, Cremers FPM, den Hollander AI, Dhaenens CM, Collin RWJ. Peeters MHCA, et al. Among authors: boon cjf. Hum Mutat. 2021 Dec;42(12):1521-1547. doi: 10.1002/humu.24275. Epub 2021 Sep 20. Hum Mutat. 2021. PMID: 34411390 Free PMC article.
Correspondence.
Boon CJ, van den Born LI, Keunen JE, Bergen AA, Riemslag FC, Florijn RJ, van Schooneveld MJ. Boon CJ, et al. Retina. 2015 Sep;35(9):e57-8. doi: 10.1097/IAE.0000000000000696. Retina. 2015. PMID: 26312452 No abstract available.
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.
Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF. Nguyen XT, et al. Among authors: boon cjf. Int J Mol Sci. 2020 Jan 28;21(3):835. doi: 10.3390/ijms21030835. Int J Mol Sci. 2020. PMID: 32012938 Free PMC article.
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study.
Nguyen XT, Talib M, van Cauwenbergh C, van Schooneveld MJ, Fiocco M, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, de Baere E, Meester-Smoor MA, De Zaeytijd J, Balikova I, Thiadens AA, Hoyng CB, Klaver CC, van den Born LI, Bergen AA, Leroy BP, Boon CJF. Nguyen XT, et al. Among authors: boon cjf. Retina. 2021 Jan 1;41(1):213-223. doi: 10.1097/IAE.0000000000002808. Retina. 2021. PMID: 32301896
Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.
Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Talsma HE, Florijn RJ, Ten Brink JB, Cremers FPM, Thiadens AAHJ, van den Born LI, Hoyng CB, Meester-Smoor MA, Bergen AA, Boon CJF. Talib M, et al. Among authors: boon cjf. Acta Ophthalmol. 2021 May;99(3):e402-e414. doi: 10.1111/aos.14597. Epub 2021 Feb 2. Acta Ophthalmol. 2021. PMID: 33528094 Free PMC article.
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.
de Muijnck C, Haer-Wigman L, van Everdingen JAM, Lushchyk T, Heutinck PAT, van Dooren MF, Kievit AJA, Verhoeven VJM, Simon MEH, Wasmann RA, Notting IC, De Baere E, Walraedt S, De Zaeytijd J, Van den Broeck F, Leroy BP, Boon CJF, van Genderen MM. de Muijnck C, et al. Among authors: boon cjf. Sci Rep. 2024 Oct 3;14(1):22956. doi: 10.1038/s41598-024-74364-x. Sci Rep. 2024. PMID: 39363032 Free PMC article.
Fundus autofluorescence imaging of retinal dystrophies.
Boon CJ, Jeroen Klevering B, Keunen JE, Hoyng CB, Theelen T. Boon CJ, et al. Vision Res. 2008 Nov;48(26):2569-77. doi: 10.1016/j.visres.2008.01.010. Epub 2008 Mar 4. Vision Res. 2008. PMID: 18289629 Free article.
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.
Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI. Saksens NT, et al. Nat Genet. 2016 Feb;48(2):144-51. doi: 10.1038/ng.3474. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691986 Free PMC article.
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
Verbakel SK, van Huet RAC, den Hollander AI, Geerlings MJ, Kersten E, Klevering BJ, Klaver CCW, Plomp AS, Wesseling NL, Bergen AAB, Nikopoulos K, Rivolta C, Ikeda Y, Sonoda KH, Wada Y, Boon CJF, Nakazawa T, Hoyng CB, Nishiguchi KM. Verbakel SK, et al. Among authors: boon cjf. Invest Ophthalmol Vis Sci. 2019 Mar 1;60(4):1192-1203. doi: 10.1167/iovs.18-26084. Invest Ophthalmol Vis Sci. 2019. PMID: 30913292
CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials.
Nguyen XT, Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Klaver CCW, Talsma HE, Fiocco M, Florijn RJ, Ten Brink JB, Cremers FPM, Meester-Smoor MA, van den Born LI, Hoyng CB, Thiadens AAHJ, Bergen AA, Boon CJF. Nguyen XT, et al. Among authors: boon cjf. Am J Ophthalmol. 2022 Feb;234:37-48. doi: 10.1016/j.ajo.2021.07.021. Epub 2021 Jul 25. Am J Ophthalmol. 2022. PMID: 34320374 Free article.
Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A.
de Muijnck C, van Schooneveld MJ, Plomp AS, Rodenburg RJ, van Genderen MM, Boon CJF. de Muijnck C, et al. Among authors: boon cjf. Am J Ophthalmol Case Rep. 2024 May 3;34:102070. doi: 10.1016/j.ajoc.2024.102070. eCollection 2024 Jun. Am J Ophthalmol Case Rep. 2024. PMID: 38756953 Free PMC article.
Generalizable Deep Learning for the Detection of Incomplete and Complete Retinal Pigment Epithelium and Outer Retinal Atrophy: A MACUSTAR Report.
de Vente C, Valmaggia P, Hoyng CB, Holz FG, Islam MM, Klaver CCW, Boon CJF, Schmitz-Valckenberg S, Tufail A, Saßmannshausen M, Sánchez CI; MACUSTAR Consortium. de Vente C, et al. Among authors: boon cjf. Transl Vis Sci Technol. 2024 Sep 3;13(9):11. doi: 10.1167/tvst.13.9.11. Transl Vis Sci Technol. 2024. PMID: 39235402 Free PMC article.
Correspondence.
Bronkhorst IH, Marinkovic M, Dijkman G, Boon CJ. Bronkhorst IH, et al. Retina. 2015 Aug;35(8):e52-4. doi: 10.1097/IAE.0000000000000680. Retina. 2015. PMID: 26166799 No abstract available.
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF. Talib M, et al. Among authors: boon cjf. Ophthalmology. 2017 Jun;124(6):884-895. doi: 10.1016/j.ophtha.2017.01.047. Epub 2017 Mar 21. Ophthalmology. 2017. PMID: 28341475
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: boon cjf. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Van de Sompele S, Small KW, Cicekdal MB, Soriano VL, D'haene E, Shaya FS, Agemy S, Van der Snickt T, Rey AD, Rosseel T, Van Heetvelde M, Vergult S, Balikova I, Bergen AA, Boon CJF, De Zaeytijd J, Inglehearn CF, Kousal B, Leroy BP, Rivolta C, Vaclavik V, van den Ende J, van Schooneveld MJ, Gómez-Skarmeta JL, Tena JJ, Martinez-Morales JR, Liskova P, Vleminckx K, De Baere E. Van de Sompele S, et al. Among authors: boon cjf. Am J Hum Genet. 2022 Nov 3;109(11):2029-2048. doi: 10.1016/j.ajhg.2022.09.013. Epub 2022 Oct 14. Am J Hum Genet. 2022. PMID: 36243009 Free PMC article.
Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study.
Karuntu JS, Nguyen XT, Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Klaver CCW, Meester-Smoor MA, van den Born LI, Hoyng CB, Thiadens AAHJ, Bergen AA, van Nispen RMA, Boon CJF. Karuntu JS, et al. Among authors: boon cjf. Acta Ophthalmol. 2024 Jun;102(4):469-477. doi: 10.1111/aos.15769. Epub 2023 Sep 25. Acta Ophthalmol. 2024. PMID: 37749859
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK. Heath Jeffery RC, et al. Among authors: boon cjf. Invest Ophthalmol Vis Sci. 2024 May 1;65(5):22. doi: 10.1167/iovs.65.5.22. Invest Ophthalmol Vis Sci. 2024. PMID: 38743414 Free PMC article.
Analysis of visual pigment by fundus autofluorescence.
Theelen T, Berendschot TT, Boon CJ, Hoyng CB, Klevering BJ. Theelen T, et al. Exp Eye Res. 2008 Feb;86(2):296-304. doi: 10.1016/j.exer.2007.10.022. Epub 2007 Nov 12. Exp Eye Res. 2008. PMID: 18096158
Reflux after intravitreal injection of bevacizumab.
Boon CJ, Crama N, Klevering BJ, van Kuijk FJ, Hoyng CB. Boon CJ, et al. Ophthalmology. 2008 Jul;115(7):1270; author reply 1271. doi: 10.1016/j.ophtha.2008.02.021. Ophthalmology. 2008. PMID: 18598829 No abstract available.
Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging.
Smailhodzic D, Fleckenstein M, Theelen T, Boon CJ, van Huet RA, van de Ven JP, Den Hollander AI, Schmitz-Valckenberg S, Hoyng CB, Weber BH, Holz FG, Klevering BJ. Smailhodzic D, et al. Invest Ophthalmol Vis Sci. 2011 Nov 21;52(12):8908-18. doi: 10.1167/iovs.11-7926. Invest Ophthalmol Vis Sci. 2011. PMID: 22003107 Clinical Trial.
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium; Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ. Thiadens AA, et al. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20. Ophthalmology. 2012. PMID: 22264887
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.
Helgason H, Sulem P, Duvvari MR, Luo H, Thorleifsson G, Stefansson H, Jonsdottir I, Masson G, Gudbjartsson DF, Walters GB, Magnusson OT, Kong A, Rafnar T, Kiemeney LA, Schoenmaker-Koller FE, Zhao L, Boon CJ, Song Y, Fauser S, Pei M, Ristau T, Patel S, Liakopoulos S, van de Ven JP, Hoyng CB, Ferreyra H, Duan Y, Bernstein PS, Geirsdottir A, Helgadottir G, Stefansson E, den Hollander AI, Zhang K, Jonasson F, Sigurdsson H, Thorsteinsdottir U, Stefansson K. Helgason H, et al. Nat Genet. 2013 Nov;45(11):1371-4. doi: 10.1038/ng.2740. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036950
Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.
Manitto MP, Roosing S, Boon CJ, Souied EH, Bandello F, Querques G. Manitto MP, et al. Eur J Hum Genet. 2015 Dec;23(12):1749-. doi: 10.1038/ejhg.2015.67. Epub 2015 Apr 15. Eur J Hum Genet. 2015. PMID: 25873014 Free PMC article. No abstract available.
Comparing half-dose photodynamic therapy with high-density subthreshold micropulse laser treatment in patients with chronic central serous chorioretinopathy (the PLACE trial): study protocol for a randomized controlled trial.
Breukink MB, Downes SM, Querques G, van Dijk EHC, den Hollander AI, Blanco-Garavito R, Keunen JEE, Souied EH, MacLaren RE, Hoyng CB, Fauser S, Boon CJF. Breukink MB, et al. Among authors: boon cjf. Trials. 2015 Sep 21;16:419. doi: 10.1186/s13063-015-0939-z. Trials. 2015. PMID: 26390920 Free PMC article. Clinical Trial.
Reply: To PMID 25267528.
Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ. Saksens NT, et al. Ophthalmology. 2015 Oct;122(10):e60. doi: 10.1016/j.ophtha.2015.04.003. Ophthalmology. 2015. PMID: 26398059 No abstract available.
Central serous chorioretinopathy in primary hyperaldosteronism.
van Dijk EH, Nijhoff MF, de Jong EK, Meijer OC, de Vries AP, Boon CJ. van Dijk EH, et al. Graefes Arch Clin Exp Ophthalmol. 2016 Oct;254(10):2033-2042. doi: 10.1007/s00417-016-3417-8. Epub 2016 Jul 8. Graefes Arch Clin Exp Ophthalmol. 2016. PMID: 27393297 Free PMC article.
Association of a Haplotype in the NR3C2 Gene, Encoding the Mineralocorticoid Receptor, With Chronic Central Serous Chorioretinopathy.
van Dijk EHC, Schellevis RL, van Bergen MGJM, Breukink MB, Altay L, Scholz P, Fauser S, Meijer OC, Hoyng CB, den Hollander AI, Boon CJF, de Jong EK. van Dijk EHC, et al. Among authors: boon cjf. JAMA Ophthalmol. 2017 May 1;135(5):446-451. doi: 10.1001/jamaophthalmol.2017.0245. JAMA Ophthalmol. 2017. PMID: 28334414 Free PMC article.
Systemic complement activation in central serous chorioretinopathy.
van Dijk EHC, Tsonaka R, Klar-Mohamad N, Wouters D, de Vries APJ, de Jong EK, van Kooten C, Boon CJF. van Dijk EHC, et al. Among authors: boon cjf. PLoS One. 2017 Jul 3;12(7):e0180312. doi: 10.1371/journal.pone.0180312. eCollection 2017. PLoS One. 2017. PMID: 28671968 Free PMC article.
FAMILIAL CENTRAL SEROUS CHORIORETINOPATHY.
van Dijk EHC, Schellevis RL, Breukink MB, Mohabati D, Dijkman G, Keunen JEE, Yzer S, den Hollander AI, Hoyng CB, de Jong EK, Boon CJF. van Dijk EHC, et al. Among authors: boon cjf. Retina. 2019 Feb;39(2):398-407. doi: 10.1097/IAE.0000000000001966. Retina. 2019. PMID: 29190234
CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.
Talib M, van Schooneveld MJ, Thiadens AA, Fiocco M, Wijnholds J, Florijn RJ, Schalij-Delfos NE, van Genderen MM, Putter H, Cremers FPM, Dagnelie G, Ten Brink JB, Klaver CCW, van den Born LI, Hoyng CB, Bergen AA, Boon CJF. Talib M, et al. Among authors: boon cjf. Retina. 2019 Jun;39(6):1186-1199. doi: 10.1097/IAE.0000000000002125. Retina. 2019. PMID: 29528978
The Decreasing Prevalence of Nonrefractive Visual Impairment in Older Europeans: A Meta-analysis of Published and Unpublished Data.
Delcourt C, Le Goff M, von Hanno T, Mirshahi A, Khawaja AP, Verhoeven VJM, Hogg RE, Anastosopoulos E, Cachulo ML, Höhn R, Wolfram C, Bron A, Miotto S, Carrière I, Colijn JM, Buitendijk GHS, Evans J, Nitsch D, Founti P, Yip JLY, Pfeiffer N, Creuzot-Garcher C, Silva R, Piermarocchi S, Topouzis F, Bertelsen G, Foster PJ, Fletcher A, Klaver CCW, Korobelnik JF; European Eye Epidemiology Consortium. Delcourt C, et al. Ophthalmology. 2018 Aug;125(8):1149-1159. doi: 10.1016/j.ophtha.2018.02.005. Epub 2018 Mar 13. Ophthalmology. 2018. PMID: 29548645 Free article. Review.
Half-Dose Photodynamic Therapy versus High-Density Subthreshold Micropulse Laser Treatment in Patients with Chronic Central Serous Chorioretinopathy: The PLACE Trial.
van Dijk EHC, Fauser S, Breukink MB, Blanco-Garavito R, Groenewoud JMM, Keunen JEE, Peters PJH, Dijkman G, Souied EH, MacLaren RE, Querques G, Downes SM, Hoyng CB, Boon CJF. van Dijk EHC, et al. Among authors: boon cjf. Ophthalmology. 2018 Oct;125(10):1547-1555. doi: 10.1016/j.ophtha.2018.04.021. Epub 2018 Jun 14. Ophthalmology. 2018. PMID: 29776672 Free article. Clinical Trial.
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
Runhart EH, Sangermano R, Cornelis SS, Verheij JBGM, Plomp AS, Boon CJF, Lugtenberg D, Roosing S, Bax NM, Blokland EAW, Jacobs-Camps MHM, van der Velde-Visser SD, Pott JR, Rohrschneider K, Thiadens AAHJ, Klaver CCW, van den Born LI, Hoyng CB, Cremers FPM. Runhart EH, et al. Among authors: boon cjf. Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3220-3231. doi: 10.1167/iovs.18-23881. Invest Ophthalmol Vis Sci. 2018. PMID: 29971439
Gender variation in central serous chorioretinopathy.
Hanumunthadu D, Van Dijk EHC, Gangakhedkar S, Goud A, Cheung CMG, Cherfan D, Sarvaiya C, Banker A, Meyerle C, Boon CJ, Singh R, Wu L, Chhablani J. Hanumunthadu D, et al. Eye (Lond). 2018 Nov;32(11):1703-1709. doi: 10.1038/s41433-018-0163-7. Epub 2018 Jul 9. Eye (Lond). 2018. PMID: 29988073 Free PMC article.
Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study.
Schellevis RL, van Dijk EHC, Breukink MB, Altay L, Bakker B, Koeleman BPC, Kiemeney LA, Swinkels DW, Keunen JEE, Fauser S, Hoyng CB, den Hollander AI, Boon CJF, de Jong EK. Schellevis RL, et al. Among authors: boon cjf. JAMA Ophthalmol. 2018 Oct 1;136(10):1128-1136. doi: 10.1001/jamaophthalmol.2018.3190. JAMA Ophthalmol. 2018. PMID: 30073298 Free PMC article.
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.
Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF. Talib M, et al. Among authors: boon cjf. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453. Invest Ophthalmol Vis Sci. 2018. PMID: 30105367
GENETIC RISK FACTORS IN ACUTE CENTRAL SEROUS CHORIORETINOPATHY.
Mohabati D, Schellevis RL, van Dijk EHC, Altay L, Fauser S, Hoyng CB, De Jong EK, Boon CJF, Yzer S. Mohabati D, et al. Among authors: boon cjf. Retina. 2019 Dec;39(12):2303-2310. doi: 10.1097/IAE.0000000000002333. Retina. 2019. PMID: 30300269
Reply.
van Dijk EHC, Fauser S, Breukink MB, Blanco-Garavito R, Keunen JEE, Groenewoud JMM, Peters PJH, Dijkman G, Souied EH, MacLaren RE, Querques G, Downes SM, Hoyng CB, Boon CJF. van Dijk EHC, et al. Among authors: boon cjf. Ophthalmology. 2019 Jan;126(1):e11. doi: 10.1016/j.ophtha.2018.06.038. Epub 2018 Nov 22. Ophthalmology. 2019. PMID: 30470545 No abstract available.
Reply.
van Dijk EHC, Fauser S, Breukink MB, Blanco-Garavito R, Groenewoud JMM, Keunen JEE, Peters PJH, Dijkman G, Souied EH, MacLaren RE, Querques G, Downes SM, Hoyng CB, Boon CJF. van Dijk EHC, et al. Among authors: boon cjf. Ophthalmology. 2019 Apr;126(4):e30-e31. doi: 10.1016/j.ophtha.2018.11.005. Ophthalmology. 2019. PMID: 30910048 No abstract available.
Focal and Diffuse Chronic Central Serous Chorioretinopathy Treated With Half-Dose Photodynamic Therapy or Subthreshold Micropulse Laser: PLACE Trial Report No. 3.
van Rijssen TJ, van Dijk EHC, Scholz P, Breukink MB, Blanco-Garavito R, Souied EH, Keunen JEE, MacLaren RE, Querques G, Fauser S, Downes SM, Hoyng CB, Boon CJF. van Rijssen TJ, et al. Among authors: boon cjf. Am J Ophthalmol. 2019 Sep;205:1-10. doi: 10.1016/j.ajo.2019.03.025. Epub 2019 Apr 3. Am J Ophthalmol. 2019. PMID: 30951686 Clinical Trial.
Patient characteristics of untreated chronic central serous chorioretinopathy patients with focal versus diffuse leakage.
van Rijssen TJ, van Dijk EHC, Scholz P, Breukink MB, Blanco-Garavito R, Souied EH, MacLaren RE, Querques G, Fauser S, Hoyng CB, Downes SM, Boon CJF. van Rijssen TJ, et al. Among authors: boon cjf. Graefes Arch Clin Exp Ophthalmol. 2019 Jul;257(7):1419-1425. doi: 10.1007/s00417-019-04333-y. Epub 2019 May 23. Graefes Arch Clin Exp Ophthalmol. 2019. PMID: 31123815
Central serous chorioretinopathy: Towards an evidence-based treatment guideline.
van Rijssen TJ, van Dijk EHC, Yzer S, Ohno-Matsui K, Keunen JEE, Schlingemann RO, Sivaprasad S, Querques G, Downes SM, Fauser S, Hoyng CB, Piccolino FC, Chhablani JK, Lai TYY, Lotery AJ, Larsen M, Holz FG, Freund KB, Yannuzzi LA, Boon CJF. van Rijssen TJ, et al. Among authors: boon cjf. Prog Retin Eye Res. 2019 Nov;73:100770. doi: 10.1016/j.preteyeres.2019.07.003. Epub 2019 Jul 15. Prog Retin Eye Res. 2019. PMID: 31319157 Free article. Review.
Elevated Steroid Hormone Levels in Active Chronic Central Serous Chorioretinopathy.
Schellevis RL, Altay L, Kalisingh A, Mulders TWF, Sitnilska V, Hoyng CB, Boon CJF, Groenewoud JMM, de Jong EK, den Hollander AI. Schellevis RL, et al. Among authors: boon cjf. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3407-3413. doi: 10.1167/iovs.19-26781. Invest Ophthalmol Vis Sci. 2019. PMID: 31387112
Foveal Sparing in Central Retinal Dystrophies.
Bax NM, Valkenburg D, Lambertus S, Klevering BJ, Boon CJF, Holz FG, Cremers FPM, Fleckenstein M, Hoyng CB, Lindner M; Foveal Sparing Atrophy Study Team (FAST). Bax NM, et al. Among authors: boon cjf. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3456-3467. doi: 10.1167/iovs.18-26533. Invest Ophthalmol Vis Sci. 2019. PMID: 31398255
Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations.
Talib M, van Schooneveld MJ, van Duuren RJG, Van Cauwenbergh C, Ten Brink JB, De Baere E, Florijn RJ, Schalij-Delfos NE, Leroy BP, Bergen AA, Boon CJF. Talib M, et al. Among authors: boon cjf. Transl Vis Sci Technol. 2019 Aug 19;8(4):24. doi: 10.1167/tvst.8.4.24. eCollection 2019 Jul. Transl Vis Sci Technol. 2019. PMID: 31448181 Free PMC article.
Hair cortisol concentrations in chronic central serous chorioretinopathy.
van Haalen FM, van Dijk EHC, Savas M, Brinks J, Dekkers OM, Dijkman G, van Rossum EFC, Biermasz NR, Boon CJF, Pereira AM. van Haalen FM, et al. Among authors: boon cjf. Acta Ophthalmol. 2020 Jun;98(4):390-395. doi: 10.1111/aos.14269. Epub 2019 Oct 13. Acta Ophthalmol. 2020. PMID: 31608607 Free article.
Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy.
Hosoda Y, Miyake M, Schellevis RL, Boon CJF, Hoyng CB, Miki A, Meguro A, Sakurada Y, Yoneyama S, Takasago Y, Hata M, Muraoka Y, Nakanishi H, Oishi A, Ooto S, Tamura H, Uji A, Miyata M, Takahashi A, Ueda-Arakawa N, Tajima A, Sato T, Mizuki N, Shiragami C, Iida T, Khor CC, Wong TY, Yamada R, Honda S, de Jong EK, Hollander AID, Matsuda F, Yamashiro K, Tsujikawa A. Hosoda Y, et al. Among authors: boon cjf. Commun Biol. 2019 Dec 12;2:468. doi: 10.1038/s42003-019-0712-z. eCollection 2019. Commun Biol. 2019. PMID: 31872073 Free PMC article.
Reply to Comment on: Focal and Diffuse Chronic Central Serous Chorioretinopathy Treated With Half-Dose Photodynamic Therapy or Subthreshold Micropulse Laser: PLACE Trial Report No. 3.
van Rijssen TJ, van Dijk EHC, Scholz P, Breukink MB, Blanco-Garavito R, Souied EH, Keunen JEE, MacLaren RE, Querques G, Fauser S, Downes SM, Hoyng CB, Boon CJF. van Rijssen TJ, et al. Among authors: boon cjf. Am J Ophthalmol. 2020 Apr;212:187-188. doi: 10.1016/j.ajo.2019.11.022. Epub 2020 Jan 29. Am J Ophthalmol. 2020. PMID: 32007226 No abstract available.
Crossover to Photodynamic Therapy or Micropulse Laser After Failure of Primary Treatment of Chronic Central Serous Chorioretinopathy: The REPLACE Trial.
van Rijssen TJ, van Dijk EHC, Scholz P, Breukink MB, Dijkman G, Peters PJH, Tsonaka R, MacLaren RE, Downes SM, Fauser S, Boon CJF, Hoyng CB. van Rijssen TJ, et al. Among authors: boon cjf. Am J Ophthalmol. 2020 Aug;216:80-89. doi: 10.1016/j.ajo.2020.04.007. Epub 2020 Apr 11. Am J Ophthalmol. 2020. PMID: 32289294 Free article. Clinical Trial.
Choroidal Anatomic Alterations After Photodynamic Therapy for Chronic Central Serous Chorioretinopathy: A Multicenter Study.
Iovino C, Au A, Chhablani J, Parameswarappa DC, Rasheed MA, Cennamo G, Cennamo G, Montorio D, Ho AC, Xu D, Querques G, Borrelli E, Sacconi R, Pichi F, Woodstock E, Sadda SR, Corradetti G, Boon CJF, van Dijk EHC, Loewenstein A, Zur D, Yoshimi S, Freund KB, Peiretti E, Sarraf D. Iovino C, et al. Among authors: boon cjf. Am J Ophthalmol. 2020 Sep;217:104-113. doi: 10.1016/j.ajo.2020.04.022. Epub 2020 Apr 28. Am J Ophthalmol. 2020. PMID: 32360342
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N; RD-CURE Consortium. Kuehlewein L, et al. Among authors: boon cjf. JAMA Ophthalmol. 2020 Dec 1;138(12):1241-1250. doi: 10.1001/jamaophthalmol.2020.4206. JAMA Ophthalmol. 2020. PMID: 33057649 Free PMC article.
Reply to Comment on: Crossover to Photodynamic Therapy or Micropulse Laser After Failure of Primary Treatment of Chronic Central Serous Chorioretinopathy.
van Rijssen TJ, van Dijk EHC, Dijkman G, Tsonaka R, Scholz P, Breukink MB, Hoyng CB, Peters PJH, MacLaren RE, Downes SM, Fauser S, Boon CJF. van Rijssen TJ, et al. Among authors: boon cjf. Am J Ophthalmol. 2021 Feb;222:397-398. doi: 10.1016/j.ajo.2020.10.005. Epub 2020 Nov 12. Am J Ophthalmol. 2021. PMID: 33188739 No abstract available.
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M. Georgiou M, et al. Among authors: boon cjf. Am J Ophthalmol. 2021 May;225:95-107. doi: 10.1016/j.ajo.2020.11.022. Epub 2020 Dec 11. Am J Ophthalmol. 2021. PMID: 33309813 Free PMC article.
Long-term follow-up of chronic central serous chorioretinopathy after successful treatment with photodynamic therapy or micropulse laser.
van Rijssen TJ, van Dijk EHC, Scholz P, Breukink MB, Dijkman G, Peters PJH, Tsonaka R, Keunen JEE, MacLaren RE, Hoyng CB, Downes SM, Fauser S, Boon CJF. van Rijssen TJ, et al. Among authors: boon cjf. Acta Ophthalmol. 2021 Nov;99(7):805-811. doi: 10.1111/aos.14775. Epub 2021 Feb 10. Acta Ophthalmol. 2021. PMID: 33565230 Free PMC article. Clinical Trial.
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.
Georgiou M, Fujinami K, Vincent A, Nasser F, Khateb S, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, De Guimarães TAC, Robson AG, Mahroo OA, Pontikos N, Arno G, Fujinami-Yokokawa Y, Leo SM, Liu X, Tsunoda K, Hayashi T, Jimenez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Carreño E, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Boon CJF, Banin E, Pennesi ME, Wissinger B, Webster AR, Héon E, Khan AO, Zrenner E, Michaelides M. Georgiou M, et al. Among authors: boon cjf. Am J Ophthalmol. 2021 Oct;230:1-11. doi: 10.1016/j.ajo.2021.03.004. Epub 2021 Mar 15. Am J Ophthalmol. 2021. PMID: 33737031 Free PMC article.
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. Black GC, et al. Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x. Orphanet J Rare Dis. 2021. PMID: 33743793 Free PMC article.
Photodynamic therapy as a treatment option for peripapillary pachychoroid syndrome: a pilot study.
Iovino C, Peiretti E, Tatti F, Querques G, Borrelli E, Sacconi R, Chhablani J, Agrawal H, Boon CJF, van Dijk EHC, Cennamo G, Lupidi M, Muzi A, Di Iorio V, Iglicki M, Smadar L, Loewenstein A, Zur D. Iovino C, et al. Among authors: boon cjf. Eye (Lond). 2022 Apr;36(4):716-723. doi: 10.1038/s41433-021-01515-z. Epub 2021 Apr 6. Eye (Lond). 2022. PMID: 33824506 Free PMC article.
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.
Runhart EH, Dhooge P, Meester-Smoor M, Pas J, Pott JWR, van Leeuwen R, Kroes HY, Bergen AA, de Jong-Hesse Y, Thiadens AA, van Schooneveld MJ, van Genderen M, Boon C, Klaver C, van den Born LI, Cremers FPM, Hoyng CB. Runhart EH, et al. Acta Ophthalmol. 2022 Jun;100(4):395-402. doi: 10.1111/aos.14996. Epub 2021 Aug 25. Acta Ophthalmol. 2022. PMID: 34431609 Free PMC article.
RESPONSE OF CHOROIDAL ABNORMALITIES TO PHOTODYNAMIC THERAPY VERSUS MICROPULSE LASER IN CHRONIC CENTRAL SEROUS CHORIORETINOPATHY: Place Trial Report No. 4.
van Rijssen TJ, Hahn LC, van Dijk EHC, Tsonaka R, Scholz P, Breukink MB, Blanco-Garavito R, Souied EH, Keunen JEE, MacLaren RE, Querques G, Fauser S, Downes SM, Hoyng CB, Boon CJF. van Rijssen TJ, et al. Among authors: boon cjf. Retina. 2021 Oct 1;41(10):2122-2131. doi: 10.1097/IAE.0000000000003157. Retina. 2021. PMID: 34543244 Clinical Trial.
EFFICACY OF HALF-DOSE PHOTODYNAMIC THERAPY VERSUS HIGH-DENSITY SUBTHRESHOLD MICROPULSE LASER FOR TREATING PIGMENT EPITHELIAL DETACHMENTS IN CHRONIC CENTRAL SEROUS CHORIORETINOPATHY.
Feenstra HMA, Hahn LC, van Rijssen TJ, Tsonaka R, Breukink MB, Keunen JEE, Peters PJH, Dijkman G, Souied EH, MacLaren RE, Querques G, Downes SM, Fauser S, Hoyng CB, van Dijk EHC, Boon CJF. Feenstra HMA, et al. Among authors: boon cjf. Retina. 2022 Apr 1;42(4):721-729. doi: 10.1097/IAE.0000000000003363. Retina. 2022. PMID: 34864802 Clinical Trial.
Spontaneous Resolution of Chronic Central Serous Chorioretinopathy: "Fuji Sign".
Feenstra HMA, Hensman J, Gkika T, Lipkova V, Hoyng CB, Diederen RMH, Schlingemann RO, Downes SM, van Dijk EHC, Boon CJF. Feenstra HMA, et al. Among authors: boon cjf. Ophthalmol Retina. 2022 Sep;6(9):861-863. doi: 10.1016/j.oret.2022.04.023. Epub 2022 May 6. Ophthalmol Retina. 2022. PMID: 35533974 Free article. No abstract available.
Repeatability and Discriminatory Power of Chart-Based Visual Function Tests in Individuals With Age-Related Macular Degeneration: A MACUSTAR Study Report.
Dunbar HMP, Behning C, Abdirahman A, Higgins BE, Binns AM, Terheyden JH, Zakaria N, Poor S, Finger RP, Leal S, Holz FG, Schmid M, Crabb DP, Rubin GS, Luhmann UFO; MACUSTAR Consortium. Dunbar HMP, et al. JAMA Ophthalmol. 2022 Aug 1;140(8):780-789. doi: 10.1001/jamaophthalmol.2022.2113. JAMA Ophthalmol. 2022. PMID: 35737401 Free PMC article.
Long-term follow-up of chronic central serous chorioretinopathy patients after primary treatment of oral eplerenone or half-dose photodynamic therapy and crossover treatment: SPECTRA trial report No. 3.
Feenstra HMA, van Dijk EHC, van Rijssen TJ, Tsonaka R, Diederen RMH, Hoyng CB, Schlingemann RO, Boon CJF. Feenstra HMA, et al. Among authors: boon cjf. Graefes Arch Clin Exp Ophthalmol. 2023 Mar;261(3):659-668. doi: 10.1007/s00417-022-05836-x. Epub 2022 Oct 7. Graefes Arch Clin Exp Ophthalmol. 2023. PMID: 36202933 Free PMC article. Clinical Trial.
Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa.
Nguyen XT, Thiadens AAHJ, Fiocco M, Tan W, McKibbin M, Klaver CCW, Meester-Smoor MA, Van Cauwenbergh C, Strubbe I, Vergaro A, Pott JR, Hoyng CB, Leroy BP, Zemaitiene R, Khan KN, Boon CJF. Nguyen XT, et al. Among authors: boon cjf. Am J Ophthalmol. 2023 Feb;246:1-9. doi: 10.1016/j.ajo.2022.10.001. Epub 2022 Oct 15. Am J Ophthalmol. 2023. PMID: 36252678 Free article.
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP. Mukhopadhyay A, et al. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3565-72. doi: 10.1167/iovs.06-0141. Invest Ophthalmol Vis Sci. 2006. PMID: 16877430
Dominant cystoid macular dystrophy.
Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ. Saksens NT, et al. Ophthalmology. 2015 Jan;122(1):180-91. doi: 10.1016/j.ophtha.2014.07.053. Epub 2014 Sep 26. Ophthalmology. 2015. PMID: 25267528
Pimasertib-associated ophthalmological adverse events.
van Dijk EHC, Kruit WHJ, Jager MJ, Luyten GPM, Vingerling JR, Boon CJF. van Dijk EHC, et al. Among authors: boon cjf. Acta Ophthalmol. 2018 Nov;96(7):712-718. doi: 10.1111/aos.13677. Epub 2018 Jan 16. Acta Ophthalmol. 2018. PMID: 29338133 Free article. Clinical Trial.
The Effect of Corticosteroids on Human Choroidal Endothelial Cells: A Model to Study Central Serous Chorioretinopathy.
Brinks J, van Dijk EHC, Habeeb M, Nikolaou A, Tsonaka R, Peters HAB, Sips HCM, van de Merbel AF, de Jong EK, Notenboom RGE, Kielbasa SM, van der Maarel SM, Quax PHA, Meijer OC, Boon CJF. Brinks J, et al. Among authors: boon cjf. Invest Ophthalmol Vis Sci. 2018 Nov 1;59(13):5682-5692. doi: 10.1167/iovs.18-25054. Invest Ophthalmol Vis Sci. 2018. PMID: 30489628
On the origin of proteins in human drusen: The meet, greet and stick hypothesis.
Bergen AA, Arya S, Koster C, Pilgrim MG, Wiatrek-Moumoulidis D, van der Spek PJ, Hauck SM, Boon CJF, Emri E, Stewart AJ, Lengyel I. Bergen AA, et al. Among authors: boon cjf. Prog Retin Eye Res. 2019 May;70:55-84. doi: 10.1016/j.preteyeres.2018.12.003. Epub 2018 Dec 17. Prog Retin Eye Res. 2019. PMID: 30572124 Review.
Evaluation of Choroidal Layer Thickness in Central Serous Chorioretinopathy.
Hanumunthadu D, van Dijk EHC, Dumpala S, Rajesh B, Jabeen A, Jabeen A, Ansari M, Mehta P, Shah S, Sarvaiya C, Meyerle C, Wu L, Banker A, Boon CJ, Chhablani J. Hanumunthadu D, et al. J Ophthalmic Vis Res. 2019 Apr-Jun;14(2):164-170. doi: 10.4103/jovr.jovr_152_17. J Ophthalmic Vis Res. 2019. PMID: 31114653 Free PMC article.
Prospective evaluation of changes in choroidal vascularity index after half-dose photodynamic therapy versus micropulse laser treatment in chronic central serous chorioretinopathy.
van Rijssen TJ, Singh SR, van Dijk EHC, Rasheed MA, Vupparaboina KK, Boon CJF, Chhablani J. van Rijssen TJ, et al. Among authors: boon cjf. Graefes Arch Clin Exp Ophthalmol. 2020 Jun;258(6):1191-1197. doi: 10.1007/s00417-020-04619-6. Epub 2020 Mar 13. Graefes Arch Clin Exp Ophthalmol. 2020. PMID: 32170365 Free PMC article. Clinical Trial.
Venous overload choroidopathy: A hypothetical framework for central serous chorioretinopathy and allied disorders.
Spaide RF, Gemmy Cheung CM, Matsumoto H, Kishi S, Boon CJF, van Dijk EHC, Mauget-Faysse M, Behar-Cohen F, Hartnett ME, Sivaprasad S, Iida T, Brown DM, Chhablani J, Maloca PM. Spaide RF, et al. Among authors: boon cjf. Prog Retin Eye Res. 2022 Jan;86:100973. doi: 10.1016/j.preteyeres.2021.100973. Epub 2021 May 21. Prog Retin Eye Res. 2022. PMID: 34029721 Free article. Review.
Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.
Haarman AEG, Enthoven CA, Tedja MS, Polling JR, Tideman JWL, Keunen JEE, Boon CJF, Felix JF, Raat H, Geerards AJM, Luyten GPM, van Rijn GA, Verhoeven VJM, Klaver CCW. Haarman AEG, et al. Among authors: boon cjf. Invest Ophthalmol Vis Sci. 2021 Aug 2;62(10):16. doi: 10.1167/iovs.62.10.16. Invest Ophthalmol Vis Sci. 2021. PMID: 34406332 Free PMC article.
MYOPIC PRESENTATION OF CENTRAL SEROUS CHORIORETINOPATHY.
Ravenstijn M, van Dijk EHC, Haarman AEG, Kaden TR, Vermeer KA, Boon CJF, Yannuzzi LA, Klaver CCW, Yzer S. Ravenstijn M, et al. Among authors: boon cjf. Retina. 2021 Dec 1;41(12):2472-2478. doi: 10.1097/IAE.0000000000003297. Retina. 2021. PMID: 34483315
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