Huchzermeyer, Cord and Fars, Julien and Stoehr, Heidi and Kremers, Jan (2021) New techniques for quantification of color vision in disorders of cone function Cambridge color test and photoreceptor-specific temporal contrast sensitivity in patients with heterozygousRP1L1andRPGRmutations. OPHTHALMOLOGE, 118. pp. 144-153. ISSN 0941-293X, 1433-0423
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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 (RP1L1gene) and X-chromosomal retinitis pigmentosa (RPGRgene, 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 ofRPGRmutations. 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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | RETINITIS-PIGMENTOSA; MUTATIONS; RPGR; RP1L1; DISCRIMINATION; IDENTIFICATION; MATCHES; ACUITY; GENE; Cone dystrophy; Retinitis pigmentosa; Color vision; Photoreceptors; Contrast sensitivity |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Petra Gürster |
| Date Deposited: | 13 Apr 2021 08:02 |
| Last Modified: | 13 Apr 2021 08:02 |
| URI: | https://pred.uni-regensburg.de/id/eprint/44521 |
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