Current treatment options for treating OPA1-mutant dominant optic atrophy
Copyright 2022 Clarivate..
Dominant optic atrophy (DOA) is caused by OPA1 gene mutation, and it represents one of the most frequently diagnosed forms of hereditary optic neuropathies. This neurodegenerative disorder typically occurs in the first decades of life, and it is often associated with severe visual impairment. For this reason, several treatment options have been examined for the management of DOA, including vitamin supplements, ubiquinone analogues (in particular idebenone) and, more recently, gene therapy. Among them, idebenone has shown the most promising clinical outcomes in recent real-life studies. Furthermore, gene therapy represents also a promising therapeutic approach; however, more evidence in clinical trials is needed. In this review, we will summarize and discuss all the possible treatment options for DOA, in order to identify the current optimal management in these patients, whose visual prognosis remains unfortunately poor and unsatisfactory in the everyday clinical practice.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:58 |
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| Enthalten in: |
Drugs of today (Barcelona, Spain : 1998) - 58(2022), 11 vom: 30. Nov., Seite 547-552 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ferro Desideri, Lorenzo [VerfasserIn] |
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| Links: |
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| Themen: |
Dominant optic atrophy |
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| Anmerkungen: |
Date Completed 28.11.2022 Date Revised 28.11.2022 published: Print Citation Status MEDLINE |
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| doi: |
10.1358/dot.2022.58.11.3448291 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM349355916 |
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| 520 | |a Dominant optic atrophy (DOA) is caused by OPA1 gene mutation, and it represents one of the most frequently diagnosed forms of hereditary optic neuropathies. This neurodegenerative disorder typically occurs in the first decades of life, and it is often associated with severe visual impairment. For this reason, several treatment options have been examined for the management of DOA, including vitamin supplements, ubiquinone analogues (in particular idebenone) and, more recently, gene therapy. Among them, idebenone has shown the most promising clinical outcomes in recent real-life studies. Furthermore, gene therapy represents also a promising therapeutic approach; however, more evidence in clinical trials is needed. In this review, we will summarize and discuss all the possible treatment options for DOA, in order to identify the current optimal management in these patients, whose visual prognosis remains unfortunately poor and unsatisfactory in the everyday clinical practice | ||
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| 650 | 4 | |a Hereditary optic neuropathies | |
| 650 | 4 | |a Leber hereditary optic neuropathy | |
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