Does Recessive Optic Atrophy Due to WFS1 Exist?

Hôpital Necker-Enfants Malades

Status: Not yet enrolling

Conditions: Wolfram Syndrome 1; Optic Atrophies, Hereditary

Treatments: Other: analyse study

Study type: Observational

Funder types: Other

Identifiers

NCT07336966

ROAWFS1

Details and patient eligibility

About

All patients with Wolfram syndrome and recessive optic atrophy due to a mutation of the WFS1 from a single Center were included in a retrospective study. Evolution of the visual acuity since the occurrence of the optic atrophy and its last value, OCT data, genetic data and systemic manifestations were analyzed.

Full description

Ophthalmological date will be include : farsighted best corrected visual acuity (BCVA) assessment, slit-lamp examination of the anterior segment, Goldman aplanation tonometry, funduscopy, retinography, Goldman manual visual field and optical coherent tomography (OCT). These will include global value of Retinal Nerve Fiber Layer (RNFL) thickness as well as the ganglion cell complex (GCC) thickness.

Enrollment: 45 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• WFS1 mutation

Exclusion criteria

• WFS2 mutation

Trial design

45 participants in 2 patient groups

wolfram syndrome

Description:

Patients according to the EuroWABB criterions of Wolfram syndrome and French national guidelines

Treatment:

Other: analyse study

recessive optic atrophy

Description:

patients with an OA due to mutation of gene WFS1, whatever its age of occurrence, without any other clinical manifestation.

Treatment:

Other: analyse study