Zobor, Ditta and Zrenner, Eberhart and Wissinger, Bernd and Kohl, Susanne and Jaegle, Herbert (2014) GUCY2D- OR GUCA1A-RELATED AUTOSOMAL DOMINANT CONE-ROD DYSTROPHY Is There a Phenotypic Difference? RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 34 (8). pp. 1576-1587. ISSN 0275-004X, 1539-2864
Full text not available from this repository. (Request a copy)Abstract
Purpose: To compare the phenotype of patients with heterozygous mutation in GUCY2D or GUCA1A causing autosomal dominant cone or cone-rod dystrophies. Methods: Five patients from one family with GUCA1A and nine patients from four families with GUCY2D mutations were included. Psychophysical and electrophysiological examinations were performed to study retinal function. Fundus autofluorescence imaging and spectral domain optical coherence tomography were performed for morphologic characterization. Results: Genetic analysis revealed the mutation c.451C>T (p.L151F) in the GUCA1A family. In the GUCY2D group, c.2512C>T (p.R838C) was the most frequent (2 families), c.2512C>G (p.R838G) and c.2513G>A (p.R838H) were found in one family each. Visual acuity was reduced to 0.04 to 0.7 in GUCA1A and to 0.014 to 0.5 in patients with GUCY2D. Dark adaptation showed elevated thresholds in the GUCY2D group. Scotopic electroretinography revealed a tendency to a more affected rod function in the GUCY2D group. Photopic electroretinography showed residual or absent responses in both groups. Fundus alterations were confined to the macula in both groups. Conclusion: GUCA1A and GUCY2D mutations are both accompanied by similar pattern of generalized cone dysfunction with a tendency to less involvement of the rod photo-receptors and a less severe phenotype in patients with GUCA1A.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | PHOTORECEPTOR GUANYLYL CYCLASE; ACTIVATING PROTEINS GCAPS; CHINESE FAMILY; MUTATION; GENE; DEGENERATION; CA2+; DIMERIZATION; DISEASE; BINDING; cone degeneration; cone-rod degeneration; electrophysiology; genetics; genotype-phenotype correlation; retinal degeneration |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Augenheilkunde |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 04 Sep 2019 13:28 |
| Last Modified: | 04 Sep 2019 13:28 |
| URI: | https://pred.uni-regensburg.de/id/eprint/9819 |
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