Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7
Chiara Ciancimino,
Mariachiara Di Pippo,
Gregorio Antonio Manco,
Silvia Romano,
Giovanni Ristori,
Gianluca Scuderi,
Solmaz Abdolrahimzadeh
Affiliations
Chiara Ciancimino
Ophthalmology Unit, Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), St. Andrea Hospital, “Sapienza” University of Rome, Via di Grottarossa 1035/1039, 00189 Rome, Italy
Mariachiara Di Pippo
Ophthalmology Unit, Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), St. Andrea Hospital, “Sapienza” University of Rome, Via di Grottarossa 1035/1039, 00189 Rome, Italy
Gregorio Antonio Manco
Ophthalmology Unit, Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), St. Andrea Hospital, “Sapienza” University of Rome, Via di Grottarossa 1035/1039, 00189 Rome, Italy
Silvia Romano
Center 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, Italy
Giovanni Ristori
Center 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, Italy
Gianluca Scuderi
Ophthalmology Unit, Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), St. Andrea Hospital, “Sapienza” University of Rome, Via di Grottarossa 1035/1039, 00189 Rome, Italy
Solmaz Abdolrahimzadeh
Ophthalmology Unit, Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), St. Andrea Hospital, “Sapienza” University of Rome, Via di Grottarossa 1035/1039, 00189 Rome, Italy
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.
