Disease: Blue cone monochromatism
- A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report
- A case of bilateral, acquired, and acute dysfunction of short-wavelength-sensitive cone systems
- A multi-stage color model revisited: implications for a gene therapy cure for red-green colorblindness
- A new mechanism in blue cone monochromatism
- A new mutation in the <em>PDE6C</em> gene in achromatopsia
- Achromatopsia
- Age-corrected reference values for the Heidelberg multi-color anomaloscope
- An unusual case of cocaine-induced maculopathy
- Appearance of special colors in deuteranomalous trichromacy
- ASSESSING PHOTORECEPTOR STRUCTURE ASSOCIATED WITH ELLIPSOID ZONE DISRUPTIONS VISUALIZED WITH OPTICAL COHERENCE TOMOGRAPHY
- Association of acquired color vision defects in blue cone monochromatism
- Biochemical characterization of cone cyclic nucleotide-gated (CNG) channel using the infrared fluorescence detection system
- Blue cone monochromacy and gene therapy
- Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations
- Blue cone monochromacy: causative mutations and associated phenotypes
- Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials
- Blue Cone Monochromatism
- Blue cone monochromatism in a female due to skewed X-inactivation
- Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in <em>OPN1LW/OPN1MW</em> and <em>GPR143</em> Genes
- Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes
- Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure
- Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals
- Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster
- Blue light-emitting diode built-in contact lens electrode can record human S-cone electroretinogram
- Case of unilateral impairment of short-wavelength sensitive cone with sudden onset
- Changes to colour vision on exposure to high altitude
- Chromatic pupillometry dissects function of the three different light-sensitive retinal cell populations in RPE65 deficiency
- Clinical utility gene card for: blue cone monochromatism
- Color constancy of color-deficient observers under illuminations defined by individual color discrimination ellipsoids
- Color preference in red-green dichromats
- Color Vision in Aniridia
- Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial
- Comment: Novel mutations in the <em>OPN1LW</em> and <em>NR2R3</em> genes in a patient with blue cone monochromacy
- Congenital motor nystagmus linked to Xq26-q27
- De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
- Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic
- Detection of Early Loss of Color Vision in Age-Related Macular Degeneration - With Emphasis on Drusen and Reticular Pseudodrusen
- Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases
- Development of a Chromatic Pupillography Protocol for the First Gene Therapy Trial in Patients With CNGA3-Linked Achromatopsia
- Differential diagnosis of cone dystrophies
- Disease mechanisms of X-linked cone dystrophy caused by missense mutations in the red and green cone opsins
- Electrophysiology and colour: a comparison of methods to evaluate inner retinal function
- Electroretinographic characteristics in children with infantile nystagmus syndrome and early-onset retinal dystrophies
- Eye and head movements in patients with achromatopsia
- Eye movement abnormalities in carriers of blue-cone monochromatism
- Foveal Cone Structure in Patients With Blue Cone Monochromacy
- Gene Therapy in <em>Opn1mw<sup>-/-</sup>/Opn1sw<sup>-/-</sup></em> Mice and Implications for Blue Cone Monochromacy Patients with Deletion Mutations
- Gene therapy in color vision deficiency: a review
- Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy
- General principles in motion vision: color blindness of object motion depends on pattern velocity in honeybee and goldfish
- Genetic causes of hereditary cone and cone-rod dystrophies
- Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy
- High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy
- Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy
- Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy
- Human S-cone electroretinograms obtained by silent substitution stimulation
- Hypoxia, color vision deficiencies, and blood oxygen saturation
- L-/M-cone opponency in visual evoked potentials of human cortex
- Loss of chromatic sensitivity in AMD and diabetes: a comparative study
- Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X
- Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65
- No rainbow for grey bamboo sharks: evidence for the absence of colour vision in sharks from behavioural discrimination experiments
- Novel <em>OPN1LW/OPN1MW</em> Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
- Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy
- Nystagmus
- Nystagmus characteristics in congenital stationary night blindness (CSNB)
- Optical coherence tomography in the diagnosis of achromatopsia
- Orthogonal relations and color constancy in dichromatic colorblindness
- Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast
- 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 syndro
- Poster Session II: Non-degenerating double cone opsin knockout mouse model of blue cone monochromacy
- Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy
- Preimplantation genetic diagnosis and monogenic inherited eye diseases
- Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease
- Quantification of color vision using a tablet display
- Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism
- Rapid quantification of color vision: the cone contrast test
- Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial
- Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRβ2 gene
- Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes
- Rescue of M-cone Function in Aged Opn1mw-/- Mice, a Model for Late-Stage Blue Cone Monochromacy
- Retinal imaging in inherited retinal diseases
- Rod and rod-driven function in achromatopsia and blue cone monochromatism
- Rod monochromatism and blue cone monochromatism: pupillary, accommodative and convergence reactions to darkness
- Rod-cone based color vision in seals under photopic conditions
- S-cone contribution to oscillatory potentials in patients with blue cone monochromacy
- Spatially Resolved Spectral Sensitivities as a Potential Read-out Parameter in Clinical Gene Therapeutic Trials
- Structural and functional rescue of cones carrying the most common cone opsin C203R missense mutation
- The cone dysfunction syndromes
- The cone dysfunction syndromes
- The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic
- The landscape of submicroscopic structural variants at the <em>OPN1LW/OPN1MW</em> gene cluster on Xq28 underlying blue cone monochromacy
- The retinal pigments of the whale shark (<em>Rhincodon typus</em>) and their role in visual foraging ecology
- The Verriest Lecture: Pathways to color in the eye and brain
- Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants
- Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children
- Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array
- Visual function and cortical organization in carriers of blue cone monochromacy
- Visual function deficits in eyes with resolved endophthalmitis
- X-linked blue cone monochromatism. A familial case report