Publications

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.
Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study.
Acta Ophthalmol. 2023 Sep 25. PMID: 37749859

de Muijnck C, Ten Brink JB, Bergen AA, Boon CJF, van Genderen MM.
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
Surv Ophthalmol. 2023 68(4):641-654. PMID: 36764396

Nguyen XT, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF.
Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.
Int J Mol Sci. 2023 24(8):7481. PMID: 37108642

Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
HGG Adv. 2023 4(2):100181. PMID: 36785559

Emri E, Cappa O, Kelly C, Kortvely E, SanGiovanni JP, McKay BS, Bergen AA, Simpson DA, Lengyel I.
Zinc Supplementation Induced Transcriptional Changes in Primary Human Retinal Pigment Epithelium: A Single-Cell RNA Sequencing Study to Understand Age-Related Macular Degeneration.
Cells. 2023 12(5):773. PMID: 36899910

Milićević N, Bergen AA, Felder-Schmittbuhl MP.
Per1 mutation enhances masking responses in mice.
Chronobiol Int. 2022 39(11):1533-1538. PMID: 36189750

Bakker R, Wagstaff EL, Kruijt CC, Emri E, van Karnebeek CDM, Hoffmann MB, Brooks BP, Boon CJF, Montoliu L, van Genderen MM, Bergen AA.
The retinal pigmentation pathway in human albinism: Not so black and white.
Prog Retin Eye Res. 2022 Jun 18:101091. PMID: 35729001

Gegnaw ST, Sandu C, Mazzaro N, Mendoza J, Bergen AA, Felder-Schmittbuhl MP.
Enhanced Robustness of the Mouse Retinal Circadian Clock Upon Inherited Retina Degeneration.
J Biol Rhythms. 2022 37(5):567-574. PMID: 35912966

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.
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Ophthalmol Retina. 2022: S2468-6530(22)00107-5. PMID: 35314386

Asefa NG, Kamali Z, Pereira S, Vaez A, Jansonius N, Bergen AA, Snieder H.
Bioinformatic Prioritization and Functional Annotation of GWAS-Based Candidate Genes for Primary Open-Angle Glaucoma.
Genes (Basel). 2022; 13(6):1055. PMID: 35741817

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.
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.
Acta Ophthalmol. 2022; 100(4):395-402. PMID: 34431609

Bery A, Bagchi U, Bergen AA, Felder-Schmittbuhl MP.
Circadian clocks, retinogenesis and ocular health in vertebrates: new molecular insights.
Dev Biol. 2022; 484:40-56. PMID: 35123983 Review.

van Eeghen AM, Bruining H, Wolf NI, Bergen AA, Houtkooper RH, van Haelst MM, van Karnebeek CD.
Personalized medicine for rare neurogenetic disorders: can we make it happen?
Cold Spring Harb Mol Case Stud. 2022; 8(2):a006200. PMID: 35332073

Koster C, van den Hurk KT, Ten Brink JB, Lewallen CF, Stanzel BV, Bharti K, Bergen AA.
Sodium-Iodate Injection Can Replicate Retinal Degenerative Disease Stages in Pigmented Mice and Rats: Non-Invasive Follow-Up Using OCT and ERG.
Int J Mol Sci. 2022 ;23(6):2918. PMID: 35328338

Brinks J, van Dijk EHC, Klaassen I, Schlingemann RO, Kielbasa SM, Emri E, Quax PHA, Bergen AA, Meijer OC, Boon CJF.
Exploring the choroidal vascular labyrinth and its molecular and structural roles in health and disease.
Prog Retin Eye Res. 2022; 87:100994. PMID: 34280556

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.
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Ophthalmology. 2022; 129(2):191-202. PMID: 34624300

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.
CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials.
Am J Ophthalmol. 2022; 234:37-48. PMID: 34320374

Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM.
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Invest Ophthalmol Vis Sci. 2022; 63(1):19. PMID: 35029636

Lo Faro V, Nolte IM, Ten Brink JB, Snieder H, Jansonius NM, Bergen AA.
Mitochondrial Genome Study Identifies Association Between Primary Open-Angle Glaucoma and Variants in MT-CYB, MT-ND4 Genes and Haplogroups.
Front Genet. 2021; 12:781189. PMID: 34976016

Gegnaw ST, Sandu C, Mendoza J, Bergen AA, Felder-Schmittbuhl MP.
Dark-adapted light response in mice is regulated by a circadian clock located in rod photoreceptors.
Exp Eye Res. 2021; 213:108807. PMID: 34695438

Nguyen XT, Almushattat H, Strubbe I, Georgiou M, Li CHZ, van Schooneveld MJ, Joniau I, De Baere E, Florijn RJ, Bergen AA, Hoyng CB, Michaelides M, Leroy BP, Boon CJF.
The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.
Genes (Basel). 2021; 12(9):1404. PMID: 34573385

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.
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Mol Genet Metab. 2021; 134(1-2):96-116. PMID: 34340878 Review.

Lo Faro V, Ten Brink JB, Snieder H, Jansonius NM, Bergen AA.
Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma.
BMC Genomics. 2021; 22(1):590. PMID: 34348663

Koster C, van den Hurk KT, Lewallen CF, Talib M, Ten Brink JB, Boon CJF, Bergen AA.
The Lrat-/- Rat: CRISPR/Cas9 Construction and Phenotyping of a New Animal Model for Retinitis Pigmentosa.
Int J Mol Sci. 2021; 22(13):7234. PMID: 34281288

Milićević N, Ait-Hmyed Hakkari O, Bagchi U, Sandu C, Jongejan A, Moerland PD, Ten Brink JB, Hicks D, Bergen AA, Felder-Schmittbuhl MP.
Core circadian clock genes Per1 and Per2 regulate the rhythm in photoreceptor outer segment phagocytosis.
FASEB J. 2021; 35(7):e21722. PMID: 34160105

Wagstaff EL, Heredero Berzal A, Boon CJF, Quinn PMJ, Ten Asbroek ALMA, Bergen AA.
The Role of Small Molecules and Their Effect on the Molecular Mechanisms of Early Retinal Organoid Development.
Int J Mol Sci. 2021; 22(13):7081. PMID: 34209272 Review.

Reurink J, Dockery A, Oziębło D, Farrar GJ, Ołdak M, Ten Brink JB, Bergen AA, Rinne T, Yntema HG, Pennings RJE, van den Born LI, Aben M, Oostrik J, Venselaar H, Plomp AS, Khan MI, van Wijk E, Cremers FPM, Roosing S, Kremer H.
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Int J Mol Sci. 2021; 22(12):6419. PMID: 34203967

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.
Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.
Acta Ophthalmol. 2021; 99(3):e402-e414. PMID: 33528094

Ibold B, Tiemann J, Faust I, Ceglarek U, Dittrich J, Gorgels TGMF, Bergen AAB, Vanakker O, Van Gils M, Knabbe C, Hendig D.
Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice.
Sci Rep. 2021; 11(1):2137. PMID: 33483533

Wagstaff EL, Ten Asbroek ALMA, Ten Brink JB, Jansonius NM, Bergen AAB.
An alternative approach to produce versatile retinal organoids with accelerated ganglion cell development.
Sci Rep. 2021; 11(1):1101. PMID: 33441707

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.
Clinical characteristics and natural history of rho-associated retinitis pigmentosa: A Long-Term Follow-Up Study.
Retina. 2021; 41(1):213-223. PMID: 32301896

Bagchi U, Gegnaw ST, Milićević N, Sandu C, Ten Brink JB, Jongejan A, Hicks D, Moerland PD, Felder-Schmittbuhl MP, Bergen AA.
Core-clock genes Period 1 and 2 regulate visual cascade and cell cycle components during mouse eye development.
Biochim Biophys Acta Gene Regul Mech. 2020; 1863(10):194623. PMID: 32795630

Lo Faro V, Siddiqui SN, Khan MI, Villanueva-Mendoza C, Cortés-González V, Jansonius N, Bergen AAB, Micheal S.
Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.
Mol Genet Genomic Med. 2020; 8(7):e1215. PMID: 32400113 Free PMC article.

Koster C, Wever KE, Wagstaff PE, Hirk KTVD, Hooijmans CR, Bergen AA.
A Systematic Review on Transplantation Studies of the Retinal Pigment Epithelium in Animal Models.
Int J Mol Sci. 2020; 21(8):2719. PMID: 32295315

Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF.
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.
Int J Mol Sci. 2020; 21(3):835. PMID: 32012938

Milićević N, Ten Brink JB, Ten Asbroek ALMA, Bergen AA, Felder-Schmittbuhl MP.
The circadian clock regulates RPE-mediated lactate transport via SLC16A1 (MCT1).
Exp Eye Res. 2020; 190:107861. PMID: 31678436

Milićević N, Ten Brink JB, Ten Asbroek ALMA, Bergen AA, Felder-Schmittbuhl MP.
The circadian clock regulates RPE-mediated lactate transport via SLC16A1 (MCT1).
Exp Eye Res. 2020; 190:107861. PMID: 31678436

Milićević N, Duursma A, Ten Asbroek ALMA, Felder-Schmittbuhl MP, Bergen AA.
Does the circadian clock make RPE-mediated ion transport “tick” via SLC12A2 (NKCC1)?
Chronobiol Int. 2019; 36(11):1592-1598. PMID: 31441327

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.
Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations.
Transl Vis Sci Technol. 2019; 8(4):24. PMID: 31448181

Micheal S, Siddiqui SN, Zafar SN, Gabriëla Niewold IT, Khan MI, Bergen AAB.
Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.
Cornea. 2019; 38(6):718-722. PMID: 30865045

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.
Clinical and genetic characteristics of male patients with rpgr-associated retinal dystrophies: A Long-Term Follow-up Study.
Retina. 2019; 39(6):1186-1199. PMID: 29528978

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.
On the origin of proteins in human drusen: The meet, greet and stick hypothesis.
Prog Retin Eye Res. 2019; 70:55-84. PMID: 30572124 Review.

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.
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
Invest Ophthalmol Vis Sci. 2019; 60(4):1192-1203. PMID: 30913292

Ibold B, Faust I, Tiemann J, Gorgels TGMF, Bergen AAB, Knabbe C, Hendig D.
Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolic active tissues.
Lipids Health Dis. 2019; 18(1):2. PMID: 30611276

den Haan J, Morrema THJ, Verbraak FD, de Boer JF, Scheltens P, Rozemuller AJ, Bergen AAB, Bouwman FH, Hoozemans JJ.
Amyloid-beta and phosphorylated tau in post-mortem Alzheimer’s disease retinas.
Acta Neuropathol Commun. 2018; 6(1):147. PMID: 30593285

Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM.
The Phenotypic Spectrum of Albinism.
Ophthalmology. 2018; 125(12):1953-1960. PMID: 30098354

van Schuppen SM, Talib M, Bergen AA, Ten Brink JB, Florijn RJ, Boon CJF, van Schooneveld MJ.
Long-term follow-up of patients with choroideremia with scleral pits and tunnels as a novel observation.
Retina. 2018; 38(9):1713-1724. PMID: 28937528

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.
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.
Invest Ophthalmol Vis Sci. 2018; 59(10):4123-4133. PMID: 30105367

Fabian-Jessing BK, Vestergaard EM, Plomp AS, Bergen AA, Dreschler WA, Duno M, Winiarska BS, Neumann L, Gaihede M, Vorum H, Petersen MB.
Ocular albinism with infertility and late-onset sensorineural hearing loss.
Am J Med Genet A. 2018; 176(7):1587-1593. PMID: 30160833

Micheal S, Niewold ITG, Siddiqui SN, Zafar SN, Khan MI, Bergen AAB.
Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.
Genes (Basel). 2018; 9(2):112. PMID: 29461512

Tedja MS, Wojciechowski R, Hysi PG, Eriksson N, Furlotte NA, Verhoeven VJM, Iglesias AI, Meester-Smoor MA, Tompson SW, Fan Q, Khawaja AP, Cheng CY, Höhn R, Yamashiro K, Wenocur A, Grazal C, Haller T, Metspalu A, Wedenoja J, Jonas JB, Wang YX, Xie J, Mitchell P, Foster PJ, Klein BEK, Klein R, Paterson AD, Hosseini SM, Shah RL, Williams C, Teo YY, Tham YC, Gupta P, Zhao W, Shi Y, Saw WY, Tai ES, Sim XL, Huffman JE, Polašek O, Hayward C, Bencic G, Rudan I, Wilson JF; CREAM Consortium; 23andMe Research Team; UK Biobank Eye and Vision Consortium, Joshi PK, Tsujikawa A, Matsuda F, Whisenhunt KN, Zeller T, van der Spek PJ, Haak R, Meijers-Heijboer H, van Leeuwen EM, Iyengar SK, Lass JH, Hofman A, Rivadeneira F, Uitterlinden AG, Vingerling JR, Lehtimäki T, Raitakari OT, Biino G, Concas MP, Schwantes-An TH, Igo RP Jr, Cuellar-Partida G, Martin NG, Craig JE, Gharahkhani P, Williams KM, Nag A, Rahi JS, Cumberland PM, Delcourt C, Bellenguez C, Ried JS, Bergen AA, Meitinger T, Gieger C, Wong TY, Hewitt AW, Mackey DA, Simpson CL, Pfeiffer N, Pärssinen O, Baird PN, Vitart V, Amin N, van Duijn CM, Bailey-Wilson JE, Young TL, Saw SM, Stambolian D, MacGregor S, Guggenheim JA, Tung JY, Hammond CJ, Klaver CCW.
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.
Nat Genet. 2018; 50(6):834-848. PMID: 29808027