Advanced Characterization of Autosomal Dominant Optic Atrophy

Glostrup University Hospital, Copenhagen

Status: Unknown

Conditions: Optic Atrophy, Autosomal Dominant

Study type: Observational

Funder types: Other

Identifiers

NCT01522638

ADOA

Details and patient eligibility

About

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.

Enrollment: 50 estimated patients

Sex: All

Ages: 8+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Subjects diagnosed with autosomal dominant optic atrophy

Exclusion criteria

• Age below 8 years old

Trial design

50 participants in 2 patient groups

ADOA

Description:

This group includes subjects diagnosed with autosomal dominant optic atrophy

Healthy subjects