Optic Atrophy, Autosomal Dominant
Conditions
Brief summary
The purpose of this study is to determine the anatomy of the retina and the optic nerve in patients with autosomal dominant optic atrophy (ADOA). Based on these findings the aim of the study is to determine why patients with the same type of genetic material, i.e. the same mutation, have such large variations of symptoms, spanning from unaffected subjects to blindness. The project requires examination of both healthy and affected family members.
Interventions
None listed
Sponsors
Study design
Eligibility
Inclusion criteria
* Subjects diagnosed with autosomal dominant optic atrophy
Exclusion criteria
* Age below 8 years old
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| visual acuity | 1 day |
| vessel caliber | 1 day |
| OCT | 1 day |
| Microperimetry | 1 day |
| Lifestyle questionnaire | 1 day |
| General checkup | 1 day |
Countries
Denmark