Neue Techniken zur Quantifizierung des Farbsinns bei Störungen der Zapfenfunktion
Huchzermeyer C, Fars J, Stöhr H, Kremers J (2020)
Publication Type: Journal article
Publication year: 2020
Journal
DOI: 10.1007/s00347-020-01119-0
Abstract
Background: Inherited retinal diseases with cone dysfunction can be accompanied by severe visual loss and a marked loss of color vision despite relatively normal fundus appearance. Autosomal dominant occult macular dystrophy (RP1L1 gene) and X‑chromosomal retinitis pigmentosa (RPGR gene, including heterozygous female carriers) are important examples. New examination techniques enable quantification of the extent of color vision disturbances. Methods: After a thorough clinical examination, color discrimination and cone function were quantified. The Cambridge color test is a computer-based test that generates pseudo-isochromatic plates with Landolt C figures for quantifying color discrimination along several axes in color space. Examination of photorecepor-specific temporal contrast sensitivity is performed by subtle cyclic modulation of the spectral composition of a light stimulus. Molecular diagnostics were carried out by next generation sequencing (NGS)-based targeted gene panel analysis and Sanger sequencing. Results: Markedly reduced color discrimination as well as reduced photoreceptor-specific temporal contrast sensitivity could be demonstrated in two patients with occult macular dystrophy and two heterozygous female carriers of RPGR mutations. Conclusion: The demonstration of dyschromatopsia is very helpful in the diagnosis of inherited retinal diseases, in addition to modern imaging techniques, such as optical coherence tomography (OCT) and fundus fluorescence. New functional techniques enable quantification of color vision disturbances and could be useful as outcome parameters in clinical trials of new gene and stem cell-based therapies.
Authors with CRIS profile
Cord Huchzermeyer
Department of Ophthalmology
Julien Fars
Professur für Experimentelle Augenheilkunde
Jan Kremers
Professur für Experimentelle Augenheilkunde
Involved external institutions
Germany (DE)How to cite
APA:
Huchzermeyer, C., Fars, J., Stöhr, H., & Kremers, J. (2020). Neue Techniken zur Quantifizierung des Farbsinns bei Störungen der Zapfenfunktion. Ophthalmologe. https://doi.org/10.1007/s00347-020-01119-0
MLA:
Huchzermeyer, Cord, et al. "Neue Techniken zur Quantifizierung des Farbsinns bei Störungen der Zapfenfunktion." Ophthalmologe (2020).
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