Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Valentin, K.
RAXONE® TREATMENT FOR PATIENTS WITH DOMINANT OPTIC ATROPHY DUE TO OPA1 GENE MUTATION
Doktoratsstudium der Medizinischen Wissenschaft; Humanmedizin; [ Dissertation ] Medizinische Universität Graz; 2023. pp. 92
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- Autor*innen der Med Uni Graz:
- Betreuer*innen:
- Speicher Michael
- Wedrich Andreas
- Altmetrics:
- Abstract:
- Background: Dominant optic atrophy is a currently untreatable disease of the retinal ganglion cells, in most cases caused by a mutation in the OPA1 gene. OPA1 mutations cause a defect in complex I of the respiratory chain. Idebenone is able to bypass complex I and to transport electrons directly to complex III. Methods: 16 patients with OPA1-dominant optic atrophy were enrolled in this study receiving 900 mg of idebenone/day for one year. Primary endpoint was defined as best recovery/least deterioration of visual acuity. Furthermore, change of visual acuity, colour vision, contrast vision, visual field, peripapillary retinal nerve fiber layer thickness and visual-performance related quality of life was assessed. Results: Concerning best recovery/least deterioration of visual acuity, a significant change of least square mean difference (LSMD) of -0.08 logMAR (P = 0.0027) was noticed for the right eye, -0.06 logMAR (P = 0.0111) for the left eye, -0.05 logMAR (P = 0.0152) for the better-seeing eye and -0.09 logMAR (P = 0058) for the worse-seeing eye. Regarding the secondary outcome change of visual acuity over 12 months, a significant change was found only for the worse-seeing eye between baseline and the 6-month follow-up (LSMD 0.05 logMAR, P = 0.0447). For colour and contrast vision no significant change could be detected. A significant improvement in visual field of -1.66 dB (P = 0.0038) was assessed in the left eye and -1.42 dB (P = 0.0447) in the worse-seeing eye between baseline and 9 months. In the left eye, a reduction of 0.67 µm (P = 0.0413) in peripapillary retinal nerve fiber layer thickness was identified between baseline and 3 months, and 0.83 µm (P = 0.0448) between baseline and 6 months. Visual performance-related quality of life showed significant improvement in the subscale general vision from a median of 60 to 80 (P = 0.0156). Additionally, the composite score improved significantly from 84 to 93 (P = 0.0256). Conclusion: Best recovery/least deterioration of visual acuity increased significantly, although the degree of improvement was not clinically relevant. After receiving idebenone for one year, visual acuity stabilized and quality of life associated with visual function increased significantly. However, it remains uncertain whether these effects can be attributed to idebenone therapy, placebo effect, or resulted from the natural course of disease progression in dominant optic atrophy.