NCT07336966

Does Recessive Optic Atrophy Due to WFS1 Exist?

Does Recessive Optic Atrophy Due to WFS1 is a Specific Entity Different From Wolfram Syndrome?

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 45 (estimated)
• Sponsor: Hôpital Necker-Enfants Malades · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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.

Detailed 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.

Conditions

• Wolfram Syndrome 1
• Optic Atrophies, Hereditary

Interventions

Type	Name	Description
OTHER	analyse study	Retrospective analyse and study of recorded data of patients with wolfram syndrome or recessive optic atrophy due to WFS1 mutation

Timeline

• Start date: 2026-02-01
• Primary completion: 2026-03-01
• Completion: 2026-04-01
• First posted: 2026-01-13
• Last updated: 2026-01-13