ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2004
Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.
Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 37 citations in OpenAlex.
- Expression of red/green-cone opsin mutants K82E, P187S, M273K result in unique pathobiological perturbations to cone structure and function.Frontiers in neuroscience · 2024Article
- Blue cone monochromacy and gene therapy.Vision research · 2023Review
- Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.Translational vision science & technology · 2023Article
- The landscape of submicroscopic structural variants at theProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.Molecular vision · 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
- Photoreceptor degeneration in a new Cacna1f mutant mouse model.Experimental eye research · 2019Article
- Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.Scientific reports · 2018Article
- A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.BMC medical genetics · 2018Article
- De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.Scientific reports · 2016Article
- Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.PloS one · 2015Article
- Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.Human mutation · 2014Article
- Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.Human gene therapy · 2013Article
- The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.Investigative ophthalmology & visual science · 2012Article
- Clinical utility gene card for: blue cone monochromatism.European journal of human genetics : EJHG · 2011Article
- Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic.Vision research · 2010Article
- X-linked cone dystrophy caused by mutation of the red and green cone opsins.American journal of human genetics · 2010Article
- [Achromatopsia].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2010Review
- [Clinical findings and diagnostics of cone dystrophy].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2009Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundX-linked blue cone monochromatism (BCM) has to be differentiated from x-linked cone dystrophy and autosomal recessive rod monochromatism.
methodsIn nine male patients with congenital cone dysfunction (one family, six single cases; age range: 9-55 years), mutations in the red/green opsin gene cluster were confirmed. Clinical findings were analyzed retrospectively.
resultsIn one family and three single cases, a single red-green hybrid gene was found carrying a Cys203Arg mutation. Two patients had multiple opsin genes, a red/green hybrid gene and at least one green pigment gene, all carrying the Cys203Arg mutation. In one patient, a large deletion of the locus control region and parts of the red pigment gene were detected. Two patients (ages: 45 and 55 years) complained about progression. Two patients presented with nystagmus. Refractive errors (+8.0 and -11.0 D) and visual acuity were variable (0.05-0.3). Only four patients had a visual acuity > or = 0.1. In two patients, visual acuity could be improved using blue filter glasses. Four of five patients > or = 25 years had dystrophic alterations in the macula. Severe color vision defects and relative central scotoma were present in all patients. In the electroretinogram, residual cone responses were detected in 2/8 patients.
conclusionsHybrid red/green opsin genes carrying the Cys203Arg mutation are a frequent cause of BCM in German patients. Molecular genetic evaluation is mandatory for adequate diagnosis of patients since from the clinical data only two patients were diagnosed as having BCM. In the other patients, either rod monochromatism or cone-rod dystrophy could not be excluded with certainty. The patients should be cautioned that macular dystrophy may develop in adults older than 30 years.
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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.