Advanced Characterization of Autosomal Dominant Optic Atrophy

Cross Sectional Study of Autosomal Dominant Opticus Atrophy

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.

Inclusion Criteria:

• Subjects diagnosed with autosomal dominant optic atrophy

Exclusion Criteria:

• Age below 8 years old