Trial reportDer Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft2004
[Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes].
Trial report in Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.Molecular vision · 2020Article
- A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- Function and dysfunction of CNG channels: insights from channelopathies and mouse models.Molecular neurobiology · 2007Review
- [Classification of biomedical research reports as a reference for evidence-based medicine in ophthalmology. A survey considering as example the journal Der Ophthalmologe].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2005Article
- Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2004Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis study compares clinical and molecular genetic findings in patients with congenital cone dysfunction.
methodsIn this study 28 patients underwent a basic ophthalmologic examination. Except for a 1-year-old boy, color vision, perimetry, and full-field ERG (ISCEV standard) were evaluated in all patients. Blood samples were taken for molecular genetic analysis of the CNGA3, CNGB3, or GNAT2 genes.
resultsTwo patient groups could be distinguished: patients without and with residual cone function in the ERG. In 14 of 17 patients without cone function, mutations in one of the three genes were detected, and except for one patient mutations in both alleles could be determined. In these patients, visual acuity was reduced to 20/400 and color discrimination was absent. In 2 of 11 patients with residual cone function, mutations in one allele of the CNGB3 gene were detected. It is of interest that 6 of 16 patients with mutations perceived their disease as progressive; in three of them we could determine a progression. Only in 4 of 16 patients was the ocular fundus normal. The other patients with mutations presented with central pigment irregularities, attenuated vessels, or pale optic disk.
conclusionIn patients with congenital cone dysfunction without cone function in the ERG, an analysis of the CNGA3, CNGB3, or GNAT2 gene is advisable. In contrast, patients with residual cone function did not show clear association with mutations in one of the three genes. In patients with mutations, retinal alterations and nystagmus are frequent. In contrast to the designation of these disorders as stationary, in some patients with mutations in the CNGA3 and CNGB3 gene slow progression was observed.
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