ArticleVision research2010
Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic.
Article in Vision research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
What it found
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Who cites it
42 citing papers in PubMed, 62 citations in OpenAlex.
- Cone Opsins and Inherited Retinal Disease.Cells · 2026Review
- Gene therapy rescues cone function inMolecular therapy. Advances · 2026Article
- Dyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency.Frontiers in neuroscience · 2024Review
- Clinical Application of Adaptive Optics Imaging in Diagnosis, Management, and Monitoring of Ophthalmological Diseases: A Narrative Review.Medical science monitor : international medical journal of experimental and clinical research · 2023Review
- Patterns and evolutionary consequences of pleiotropy.Annual review of ecology, evolution, and systematics · 2023Article
- Blue cone monochromacy and gene therapy.Vision research · 2023Review
- The landscape of submicroscopic structural variants at theProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Gene Therapy inHuman gene therapy · 2022Article
- Disease mechanisms of X-linked cone dystrophy caused by missense mutations in the red and green cone opsins.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Promises and pitfalls of evaluating photoreceptor-based retinal disease with adaptive optics scanning light ophthalmoscopy (AOSLO).Progress in retinal and eye research · 2021Review
- Retinal Differential Light Sensitivity Variation Across the Macula in Healthy Subjects: Importance of Cone Separation and Loci Eccentricity.Translational vision science & technology · 2021Article
- Revealing How Color Vision Phenotype and Genotype Manifest in Individual Cone Cells.Investigative ophthalmology & visual science · 2021Article
- Retinal imaging in inherited retinal diseases.Annals of eye science · 2020Article
- Mapping theProceedings of the National Academy of Sciences of the United States of America · 2020Article
- Rescue of M-cone Function in Aged Opn1mw-/- Mice, a Model for Late-Stage Blue Cone Monochromacy.Investigative ophthalmology & visual science · 2019Article
- CELLULAR IMAGING OF THE TAPETAL-LIKE REFLEX IN CARRIERS OF RPGR-ASSOCIATED RETINOPATHY.Retina (Philadelphia, Pa.) · 2019Article
- Multiple trans QTL and one cis-regulatory deletion are associated with the differential expression of cone opsins in African cichlids.BMC genomics · 2018Article
- Adaptive optics imaging of inherited retinal diseases.The British journal of ophthalmology · 2018Review
- Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy.Molecular vision · 2018Article
- Intraframe motion correction for raster-scanned adaptive optics images using strip-based cross-correlation lag biases.PloS one · 2018Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 1 country.
Funding
Abstract
Blue cone monochromacy (BCM) is an X-linked condition in which long- (L) and middle- (M) wavelength-sensitive cone function is absent. Due to the X-linked nature of the condition, female carriers are spared from a full manifestation of the associated defects but can show visual symptoms, including abnormal cone electroretinograms. Here we imaged the cone mosaic in four females carrying an L/M array with deletion of the locus control region, resulting in an absence of L/M opsin gene expression (effectively acting as a cone opsin knockout). On average, they had cone mosaics with reduced density and disrupted organization compared to normal trichromats. This suggests that the absence of opsin in a subset of cones results in their early degeneration, with X-inactivation the likely mechanism underlying phenotypic variability in BCM carriers.
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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.