Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7
The aim of this case series and narrative literature review is to highlight the importance of multimodal imaging in the ophthalmological examination of patients with spinocerebellar ataxia type 7 and provide a summary of the most relevant imaging techniques. Three patients with SCA7 were included in...
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| Format: | Article |
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MDPI AG
2023-11-01
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| Online Access: | https://www.mdpi.com/2075-1729/13/11/2169 |
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| author | Chiara Ciancimino Mariachiara Di Pippo Gregorio Antonio Manco Silvia Romano Giovanni Ristori Gianluca Scuderi Solmaz Abdolrahimzadeh |
| author_facet | Chiara Ciancimino Mariachiara Di Pippo Gregorio Antonio Manco Silvia Romano Giovanni Ristori Gianluca Scuderi Solmaz Abdolrahimzadeh |
| author_sort | Chiara Ciancimino |
| collection | DOAJ |
| description | The aim of this case series and narrative literature review is to highlight the importance of multimodal imaging in the ophthalmological examination of patients with spinocerebellar ataxia type 7 and provide a summary of the most relevant imaging techniques. Three patients with SCA7 were included in this case series. A literature review revealed twenty-one publications regarding ocular manifestations of SCA7, and the most relevant aspects are summarized. The role of different imaging techniques in the follow-up of SCA7 patients is analyzed, including color vision testing, corneal endothelial topography, color fundus photography (CFP) and autofluorescence, near infrared reflectance imaging, spectral domain optical coherence tomography (SDOCT), visual field examination, and electrophysiological tests. SDOCT provides a rapid and non-invasive imaging evaluation of disease progression over time. Additional examination including NIR imaging can provide further information on photoreceptor alteration and subtle disruption of the RPE, which are not evident with CFP at an early stage. Electrophysiological tests provide essential results on the state of cone and rod dystrophy, which could be paramount in guiding future genetic therapies. Multimodal imaging is a valuable addition to comprehensive ophthalmological examination in the diagnosis and management of patients with SCA7. |
| first_indexed | 2024-03-09T16:40:22Z |
| format | Article |
| id | doaj.art-b77e8ec5e22b4bfbae9cfae0d2e2ed9f |
| institution | Directory Open Access Journal |
| issn | 2075-1729 |
| language | English |
| last_indexed | 2024-03-09T16:40:22Z |
| publishDate | 2023-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Life |
| spelling | doaj.art-b77e8ec5e22b4bfbae9cfae0d2e2ed9f2023-11-24T14:52:27ZengMDPI AGLife2075-17292023-11-011311216910.3390/life13112169Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7Chiara Ciancimino0Mariachiara Di Pippo1Gregorio Antonio Manco2Silvia Romano3Giovanni Ristori4Gianluca Scuderi5Solmaz Abdolrahimzadeh6Ophthalmology Unit, Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), St. Andrea Hospital, “Sapienza” University of Rome, Via di Grottarossa 1035/1039, 00189 Rome, ItalyOphthalmology Unit, Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), St. Andrea Hospital, “Sapienza” University of Rome, Via di Grottarossa 1035/1039, 00189 Rome, ItalyOphthalmology Unit, Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), St. Andrea Hospital, “Sapienza” University of Rome, Via di Grottarossa 1035/1039, 00189 Rome, ItalyCenter for Experimental Neurological Therapies (CENTERS), Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), St. Andrea Hospital, “Sapienza” University of Rome, Via di Grottarossa 1035/1039, 00189 Rome, ItalyCenter for Experimental Neurological Therapies (CENTERS), Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), St. Andrea Hospital, “Sapienza” University of Rome, Via di Grottarossa 1035/1039, 00189 Rome, ItalyOphthalmology Unit, Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), St. Andrea Hospital, “Sapienza” University of Rome, Via di Grottarossa 1035/1039, 00189 Rome, ItalyOphthalmology Unit, Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), St. Andrea Hospital, “Sapienza” University of Rome, Via di Grottarossa 1035/1039, 00189 Rome, ItalyThe aim of this case series and narrative literature review is to highlight the importance of multimodal imaging in the ophthalmological examination of patients with spinocerebellar ataxia type 7 and provide a summary of the most relevant imaging techniques. Three patients with SCA7 were included in this case series. A literature review revealed twenty-one publications regarding ocular manifestations of SCA7, and the most relevant aspects are summarized. The role of different imaging techniques in the follow-up of SCA7 patients is analyzed, including color vision testing, corneal endothelial topography, color fundus photography (CFP) and autofluorescence, near infrared reflectance imaging, spectral domain optical coherence tomography (SDOCT), visual field examination, and electrophysiological tests. SDOCT provides a rapid and non-invasive imaging evaluation of disease progression over time. Additional examination including NIR imaging can provide further information on photoreceptor alteration and subtle disruption of the RPE, which are not evident with CFP at an early stage. Electrophysiological tests provide essential results on the state of cone and rod dystrophy, which could be paramount in guiding future genetic therapies. Multimodal imaging is a valuable addition to comprehensive ophthalmological examination in the diagnosis and management of patients with SCA7.https://www.mdpi.com/2075-1729/13/11/2169spinocerebellar ataxiaSCA7ocular manifestationscolor fundus photographyspectral domain optical coherence tomographymultimodal imaging |
| spellingShingle | Chiara Ciancimino Mariachiara Di Pippo Gregorio Antonio Manco Silvia Romano Giovanni Ristori Gianluca Scuderi Solmaz Abdolrahimzadeh Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7 Life spinocerebellar ataxia SCA7 ocular manifestations color fundus photography spectral domain optical coherence tomography multimodal imaging |
| title | Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7 |
| title_full | Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7 |
| title_fullStr | Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7 |
| title_full_unstemmed | Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7 |
| title_short | Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7 |
| title_sort | multimodal ophthalmic imaging in spinocerebellar ataxia type 7 |
| topic | spinocerebellar ataxia SCA7 ocular manifestations color fundus photography spectral domain optical coherence tomography multimodal imaging |
| url | https://www.mdpi.com/2075-1729/13/11/2169 |
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