Associated Papers
Blue Cone Monochromatism.
Hartung KJ et al.
Advances in Experimental Medicine and Biology, 2025
Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.
Cideciyan AV et al.
International Journal of Molecular Sciences, 2024
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M et al.
Progress in Retinal and Eye Research, 2024
Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.
Wang Y et al.
Investigative Ophthalmology & Visual Science, 2023
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
Haer-Wigman L et al.
Npj Genomic Medicine, 2022
Ocular findings and genomics of X-linked recessive disorders: A review.
Hassan A et al.
Indian Journal of Ophthalmology, 2022
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.
Khateb S et al.
Molecular Vision, 2022
Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence.
Sumaroka A et al.
Frontiers in Neuroscience, 2020
Rescue of M-cone Function in Aged Opn1mw-/- Mice, a Model for Late-Stage Blue Cone Monochromacy.
Deng WT et al.
Investigative Ophthalmology & Visual Science, 2019
Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy.
Cai B et al.
Ophthalmic Genetics, 2019
Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.
Katagiri S et al.
Scientific Reports, 2018
Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy.
Deng WT et al.
Molecular Vision, 2018
Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy.
Zhang Y et al.
Scientific Reports, 2017
Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.
Patterson EJ et al.
Investigative Ophthalmology & Visual Science, 2016
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
Buena-Atienza E et al.
Scientific Reports, 2016
Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy.
Wang C et al.
Human Genome Variation, 2016
Lessons learned from family history in ocular genetics.
Marino MJ
Current Opinion in Ophthalmology, 2015
Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.
Luo X et al.
Plos One, 2015
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.
Gardner JC et al.
Human Mutation, 2014
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.
Carroll J et al.
Investigative Ophthalmology & Visual Science, 2012
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).
Gardner JC et al.
Advances in Experimental Medicine and Biology, 2012
[Achromatopsia].
Poloschek CM et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2010
Oligocone trichromacy: clinical and molecular genetic investigations.
Andersen MK et al.
Investigative Ophthalmology & Visual Science, 2010
Gene conversion between red and defective green opsin gene in blue cone monochromacy.
Reyniers E et al.
Genomics, 1995
Blue cone monochromatism in a female due to skewed X-inactivation.
Frederiksen AL et al.
Ophthalmic Genetics, 0