Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia
Purpose: Friedreich ataxia (FDRA) is a debilitating neurodegenerative disease that can have ophthalmological manifestations including visual dysfunction, nystagmus, and optic atrophy. However, severe photophobia has not been reported nor evaluated with functional magnetic resonance imaging (fMRI). M...
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Elsevier
2024-12-01
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| Series: | American Journal of Ophthalmology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993624002238 |
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| author | Araliya N. Gunawardene Nicholas Reyes David Valdes-Arias Alpen Ortug Jaime Martinez Anat Galor Eric A. Moulton |
| author_facet | Araliya N. Gunawardene Nicholas Reyes David Valdes-Arias Alpen Ortug Jaime Martinez Anat Galor Eric A. Moulton |
| author_sort | Araliya N. Gunawardene |
| collection | DOAJ |
| description | Purpose: Friedreich ataxia (FDRA) is a debilitating neurodegenerative disease that can have ophthalmological manifestations including visual dysfunction, nystagmus, and optic atrophy. However, severe photophobia has not been reported nor evaluated with functional magnetic resonance imaging (fMRI). Methods: A 64-year-old white female with a 37-year history of FDRA presented to the eye clinic with worsening photophobia of 3 years. To measure her visual cortex activation and subjective responses during episodes of photophobia, she underwent event-related fMRI with light stimuli. In comparison, the same protocol was conducted in an individual with photophobia but without FDRA. After the fMRI, both patients were treated with 35 units of BoNT-A applied to the forehead. Results: Analysis of visual cortex activity in response to light stimulus in the FDRA patient showed no correlation between blood oxygen level dependent (BOLD) activation and light stimuli in the first (r = −0.100, p = 0.235), and a weak negative correlation in the second half of the fMRI scan (r = −0.236 p = 0.004). In notable contrast, significant positive correlations were noted between visual cortex activity and the light stimulus (1st half: r = 0.742, p < 0.001, vs. 2nd half: r = 0.614, p < 0.001) in the comparator. Six weeks later, no improvement in photophobia was noted in either patient. Conclusion: Our study highlights photophobia as one potential ocular manifestation of FDRA and suggests that one underlying contributor may be a decoupled cortical neurovascular response to light. Our study provides novel information that may guide physiologic understanding and future treatments in this disease. |
| format | Article |
| id | doaj-art-a7e77f76fd3f4986b82fafb4ac48bf3d |
| institution | OA Journals |
| issn | 2451-9936 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj-art-a7e77f76fd3f4986b82fafb4ac48bf3d2025-08-20T02:37:02ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362024-12-013610221310.1016/j.ajoc.2024.102213Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich AtaxiaAraliya N. Gunawardene0Nicholas Reyes1David Valdes-Arias2Alpen Ortug3Jaime Martinez4Anat Galor5Eric A. Moulton6Ophthalmology, Miami Veterans Affairs Medical Center, 1201 NW 16 Street, Miami, FL, 33125, USA; Bascom Palmer Eye Institute, University of Miami, 900 NW 17 Street, Miami, FL, 33136, USAOphthalmology, Miami Veterans Affairs Medical Center, 1201 NW 16 Street, Miami, FL, 33125, USA; Bascom Palmer Eye Institute, University of Miami, 900 NW 17 Street, Miami, FL, 33136, USAOphthalmology, Miami Veterans Affairs Medical Center, 1201 NW 16 Street, Miami, FL, 33125, USA; Bascom Palmer Eye Institute, University of Miami, 900 NW 17 Street, Miami, FL, 33136, USARadiology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02115, USA; Brain and Eye Pain Imaging Lab, Pain and Affective Neuroscience Center, Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital/Harvard Medical School, 300 Longwood Avenue., Boston, MA, 02115, USABascom Palmer Eye Institute, University of Miami, 900 NW 17 Street, Miami, FL, 33136, USAOphthalmology, Miami Veterans Affairs Medical Center, 1201 NW 16 Street, Miami, FL, 33125, USA; Bascom Palmer Eye Institute, University of Miami, 900 NW 17 Street, Miami, FL, 33136, USA; Corresponding author. 900 NW 17 Street, Miami, FL, 33136, USA.Brain and Eye Pain Imaging Lab, Pain and Affective Neuroscience Center, Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital/Harvard Medical School, 300 Longwood Avenue., Boston, MA, 02115, USA; Department of Ophthalmology, Boston Children's Hospital/Harvard Medical School, 300 Longwood Avenue., Boston, MA, 02115, USAPurpose: Friedreich ataxia (FDRA) is a debilitating neurodegenerative disease that can have ophthalmological manifestations including visual dysfunction, nystagmus, and optic atrophy. However, severe photophobia has not been reported nor evaluated with functional magnetic resonance imaging (fMRI). Methods: A 64-year-old white female with a 37-year history of FDRA presented to the eye clinic with worsening photophobia of 3 years. To measure her visual cortex activation and subjective responses during episodes of photophobia, she underwent event-related fMRI with light stimuli. In comparison, the same protocol was conducted in an individual with photophobia but without FDRA. After the fMRI, both patients were treated with 35 units of BoNT-A applied to the forehead. Results: Analysis of visual cortex activity in response to light stimulus in the FDRA patient showed no correlation between blood oxygen level dependent (BOLD) activation and light stimuli in the first (r = −0.100, p = 0.235), and a weak negative correlation in the second half of the fMRI scan (r = −0.236 p = 0.004). In notable contrast, significant positive correlations were noted between visual cortex activity and the light stimulus (1st half: r = 0.742, p < 0.001, vs. 2nd half: r = 0.614, p < 0.001) in the comparator. Six weeks later, no improvement in photophobia was noted in either patient. Conclusion: Our study highlights photophobia as one potential ocular manifestation of FDRA and suggests that one underlying contributor may be a decoupled cortical neurovascular response to light. Our study provides novel information that may guide physiologic understanding and future treatments in this disease.http://www.sciencedirect.com/science/article/pii/S2451993624002238Friedreich AtaxiaPhotophobiaBotulinum toxin AFunctional magnetic resonance imaging |
| spellingShingle | Araliya N. Gunawardene Nicholas Reyes David Valdes-Arias Alpen Ortug Jaime Martinez Anat Galor Eric A. Moulton Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia American Journal of Ophthalmology Case Reports Friedreich Ataxia Photophobia Botulinum toxin A Functional magnetic resonance imaging |
| title | Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia |
| title_full | Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia |
| title_fullStr | Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia |
| title_full_unstemmed | Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia |
| title_short | Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia |
| title_sort | abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in friedreich ataxia |
| topic | Friedreich Ataxia Photophobia Botulinum toxin A Functional magnetic resonance imaging |
| url | http://www.sciencedirect.com/science/article/pii/S2451993624002238 |
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