Publication Date
| In 2025 | 0 |
| Since 2024 | 0 |
| Since 2021 (last 5 years) | 0 |
| Since 2016 (last 10 years) | 0 |
| Since 2006 (last 20 years) | 2 |
Descriptor
| Visual Acuity | 3 |
| Visual Impairments | 3 |
| Diagnostic Tests | 2 |
| Eye Movements | 2 |
| Genetics | 2 |
| Human Body | 2 |
| Neurological Impairments | 2 |
| Patients | 2 |
| Brain | 1 |
| Clinical Diagnosis | 1 |
| Comparative Analysis | 1 |
| More ▼ | |
Source
| Brain | 3 |
Author
| Awan, Musarat | 1 |
| Barboni, Piero | 1 |
| Carelli, Valerio | 1 |
| Cremer, Phillip D. | 1 |
| Degg, Chris | 1 |
| Farooq, Shegufta J. | 1 |
| Fortuna, Filippo | 1 |
| Gale, Richard P. | 1 |
| Gellera, Cinzia | 1 |
| Gottlob, Irene | 1 |
| Halmagyi, G. Michael | 1 |
| More ▼ | |
Publication Type
| Journal Articles | 3 |
| Reports - Research | 3 |
Education Level
Audience
Location
Laws, Policies, & Programs
Assessments and Surveys
What Works Clearinghouse Rating
Peer reviewed
Direct linkFortuna, Filippo; Barboni, Piero; Liguori, Rocco; Valentino, Maria Lucia; Savini, Giacomo; Gellera, Cinzia; Mariotti, Caterina; Rizzo, Giovanni; Tonon, Caterina; Manners, David; Lodi, Raffaele; Sadun, Alfredo A.; Carelli, Valerio – Brain, 2009
Optic neuropathy is common in mitochondrial disorders, but poorly characterized in Friedreich's ataxia (FRDA), a recessive condition caused by lack of the mitochondrial protein frataxin. We investigated 26 molecularly confirmed FRDA patients by studying both anterior and posterior sections of the visual pathway using a new, integrated approach.…
Descriptors: Visual Impairments, Diseases, Field Tests, Optics
Phenotypical Characteristics of Idiopathic Infantile Nystagmus with and without Mutations in "FRMD7"
Thomas, Shery; Proudlock, Frank A.; Sarvananthan, Nagini; Roberts, Eryl O.; Awan, Musarat; McLean, Rebecca; Surendran, Mylvaganam; Kumar, A. S. Anil; Farooq, Shegufta J.; Degg, Chris; Gale, Richard P.; Reinecke, Robert D.; Woodruff, Geoffrey; Langmann, Andrea; Lindner, Susanne; Jain, Sunila; Tarpey, Patrick; Raymond, F. Lucy; Gottlob, Irene – Brain, 2008
Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene "FRMD7" (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye…
Descriptors: Visual Impairments, Eye Movements, Visual Acuity, Depth Perception
Migliaccio, Americo A.; Halmagyi, G. Michael; McGarvie, Leigh A.; Cremer, Phillip D. – Brain, 2004
We report four patients with the syndrome of cerebellar ataxia with bilateral vestibulopathy (CABV) and, using search coil oculography, we validate its characteristic clinical sign, namely impairment of the visually enhanced vestibulo-ocular reflex (VVOR) or doll's head reflex. In our four patients, CABV began in the sixth decade of life; they are…
Descriptors: Human Body, Eye Movements, Neurological Impairments, Kinesthetic Perception
