Research & Literature

High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.

Yatsenko SA, Bakos HA, Vitullo K, et al.

Clinical genetics 2016; (89(1)):82-7 doi:10.1111/cge.12638.

The Role of X-Chromosome Inactivation in Retinal Development and Disease.

Fahim AT, Daiger SP

Advances in experimental medicine and biology 2016; (854()):325-31 doi:10.1007/978-3-319-17121-0_43.

Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy.

Wang C, Hosono K, Kachi S, et al.

Human genome variation 2016; (3()):16011 doi:10.1038/hgv.2016.11.

Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases.

Cideciyan AV, Roman AJ, Jacobson SG, et al.

Investigative ophthalmology & visual science 2016; (57(7)):3211-21 doi:10.1167/iovs.16-19586.

Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy.

Zhang Y, Deng WT, Du W, et al.

Scientific reports 2017; (7(1)):6690 doi:10.1038/s41598-017-06982-7.

Human S-cone electroretinograms obtained by silent substitution stimulation.

Maguire J, Parry NRA, Kremers J, et al.

Journal of the Optical Society of America. A, Optics, image science, and vision 2018; (35(4)):B11-B18 doi:10.1364/JOSAA.35.000B11.

A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.

Buena-Atienza E, Nasser F, Kohl S, Wissinger B

BMC medical genetics 2018; (19(1)):107 doi:10.1186/s12881-018-0623-8.

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.

Katagiri S, Iwasa M, Hayashi T, et al.

Scientific reports 2018; (8(1)):11507 doi:10.1038/s41598-018-29891-9.

Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations.

Sumaroka A, Garafalo AV, Cideciyan AV, et al.

Investigative ophthalmology & visual science 2018; (59(15)):5762-5772 doi:10.1167/iovs.18-25280.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Felden J, Baumann B, Ali M, et al.

Human mutation 2019; (40(8)):1145-1155 doi:10.1002/humu.23768.

Rescue of M-cone Function in Aged Opn1mw-/- Mice, a Model for Late-Stage Blue Cone Monochromacy.

Deng WT, Li J, Zhu P, et al.

Investigative ophthalmology & visual science 2019; (60(10)):3644-3651 doi:10.1167/iovs.19-27079.

ISCEV extended protocol for the S-cone ERG.

Perlman I, Kondo M, Chelva E, et al.

Documenta ophthalmologica. Advances in ophthalmology 2020; (140(2)):95-101 doi:10.1007/s10633-019-09730-6.

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.

De Silva SR, Arno G, Robson AG, et al.

Progress in retinal and eye research 2021; (82()):100898 doi:10.1016/j.preteyeres.2020.100898.

Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children.

Haseoka T, Inagaki R, Kurata K, et al.

Japanese journal of ophthalmology 2021; (65(1)):23-29 doi:10.1007/s10384-020-00782-9.

Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial.

Semenov EP, Sheplock R, Roman AJ, et al.

Translational vision science & technology 2020; (9(13)):13 doi:10.1167/tvst.9.13.13.

Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes.

Iarossi G, Coppè AM, Passarelli C, et al.

International journal of molecular sciences 2021; (22(16)) doi:10.3390/ijms22168617.

Association of Reading Performance in Geographic Atrophy Secondary to Age-Related Macular Degeneration With Visual Function and Structural Biomarkers.

Künzel SH, Lindner M, Sassen J, et al.

JAMA ophthalmology 2021; (139(11)):1191-1199 doi:10.1001/jamaophthalmol.2021.3826.

NDP-related retinopathies: clinical phenotype of female carriers.

Huang L, Sun L, Li X, et al.

The British journal of ophthalmology 2023; (107(8)):1151-1155 doi:10.1136/bjophthalmol-2021-320084.

Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.

Khateb S, Shemesh A, Offenheim A, et al.

Molecular vision 2022; (28()):21-28.

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.

Stingl K, Baumann B, De Angeli P, et al.

International journal of molecular sciences 2022; (23(12)) doi:10.3390/ijms23126868.

Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure.

Llorente-La-Orden C, Burgos-Blasco B, Domingo-Gordo B, et al.

Journal of pediatric genetics 2022; (11(2)):151-153 doi:10.1055/s-0040-1716332.

Comparing Retinal Structure in Patients with Achromatopsia and Blue Cone Monochromacy Using OCT.

Patterson EJ, Langlo CS, Georgiou M, et al.

Ophthalmology science 2021; (1(3)) doi:10.1016/j.xops.2021.100047.

Foveal Cone Structure in Patients With Blue Cone Monochromacy.

Patterson EJ, Kalitzeos A, Kane TM, et al.

Investigative ophthalmology & visual science 2022; (63(11)):23 doi:10.1167/iovs.63.11.23.

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.

Mascio AA, Roman AJ, Cideciyan AV, et al.

Translational vision science & technology 2023; (12(1)):25 doi:10.1167/tvst.12.1.25.

Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy.

Hanna K, Nieves J, Dowd C, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2023; (31(7)):2014-2027 doi:10.1016/j.ymthe.2023.03.011.

Blue cone monochromacy and gene therapy.

Sechrest ER, Chmelik K, Tan WD, Deng WT

Vision research 2023; (208()):108221 doi:10.1016/j.visres.2023.108221.

Morphological and Functional Aspects and Quality of Life in Patients with Achromatopsia.

Chan C, Seitz B, Käsmann-Kellner B

Journal of personalized medicine 2023; (13(7)) doi:10.3390/jpm13071106.

Structural and functional rescue of cones carrying the most common cone opsin C203R missense mutation.

Sechrest ER, Ma X, Cahill ME, et al.

JCI insight 2024; (9(2)).

Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.

Cideciyan AV, Roman AJ, Warner RL, et al.

International journal of molecular sciences 2024; (25(19)) doi:10.3390/ijms251910639.

Blue Cone Monochromatism.

Hartung KJ, Tsang SH, Sharma T, Diaconita V

Advances in experimental medicine and biology 2025; (1467()):73-75 doi:10.1007/978-3-031-72230-1_14.

Molecular mechanisms limiting the AAV gene therapy treatment window in mouse models of blue cone monochromacy.

Brothers BA, Sechrest ER, Ma L, et al.

Communications biology 2025; (8(1)):1654 doi:10.1038/s42003-025-09045-0.