ArticleVision research2013
X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene.
Article in Vision research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- Cone Opsins and Inherited Retinal Disease.Cells · 2026Review
- Prevalence and genotypic frequency of color vision defects among primary schoolchildren in Adama Town, Eastern Ethiopia.BMC pediatrics · 2024Article
- Dyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency.Frontiers in neuroscience · 2024Review
- Applications of Genomics and Transcriptomics in Precision Medicine for Myopia Control or Prevention.Biomolecules · 2023Review
- Association Between Color Vision Deficiency and Myopia in Chinese Children Over a Five-Year Period.Investigative ophthalmology & visual science · 2022Article
- Chimeric human opsins as optogenetic light sensitisers.The Journal of experimental biology · 2021Article
- IMI Risk Factors for Myopia.Investigative ophthalmology & visual science · 2021Review
- BBSome Component BBS5 Is Required for Cone Photoreceptor Protein Trafficking and Outer Segment Maintenance.Investigative ophthalmology & visual science · 2020Article
- The Degeneration and Apoptosis Patterns of Cone Photoreceptors inJournal of ophthalmology · 2017Article
- Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.Investigative ophthalmology & visual science · 2016Article
- Advances in understanding the molecular basis of the first steps in color vision.Progress in retinal and eye research · 2015Review
- Prevalence and gene frequency of color vision impairments among children of six populations from North Indian region.Genes & diseases · 2015Article
- Curing color blindness--mice and nonhuman primates.Cold Spring Harbor perspectives in medicine · 2014Review
- Adaptive optics retinal imaging--clinical opportunities and challenges.Current eye research · 2013Review
Corrections and comments
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Authors and funding
10 authors at 8 institutions in 3 countries.
Funding
Abstract
In this report, we describe a male subject who presents with a complex phenotype of myopia associated with cone dysfunction and a protan vision deficiency. Retinal imaging demonstrates extensive cone disruption, including the presence of non-waveguiding cones, an overall thinning of the retina, and an irregular mottled appearance of the hyper-reflective band associated with the inner segment ellipsoid portion of the photoreceptor. Mutation screening revealed a novel p.Glu41Lys missense mutation in a hybrid L/M opsin gene. Spectral analysis shows that the mutant opsin fails to form a pigment in vitro and fails to be trafficked to the cell membrane in transfected Neuro2a cells. Extensive sequence and quantitative PCR analysis identifies this mutant gene as the only gene present in the affected subject's L/M opsin gene array, yet the presence of protanopia indicates that the mutant opsin must retain some activity in vivo. To account for this apparent contradiction, we propose that a limited amount of functional pigment is formed within the normal cellular environment of the intact photoreceptor, and that this requires the presence of chaperone proteins that promote stability and normal folding of the mutant protein.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.