A clinical and molecular genetic analysis of dominant optic atrophy |
| Miss M Votruba |
|
Institute of Ophthalmology |
|
Question: To characterise the clinical features of the disease; to test for possible genetic heterogeneity; to further refine the locus for the DOA on the distal long arm of chromosome 3. Methods:Clinical/Laboratory: genealogy; clinical exam; molecular biology; psychophysics; electrophysiology; colour psychophysics Sample:100 patients with dominant optic atrophy. Outcome Measures :To understand pathophysiology of the disease. |
| Funded By: Guide Dogs for the Blind Association |
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