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

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07336966

Enrollment

Registered

2026-01-13

Start date

2026-02-28

Completion date

2026-04-30

Last updated

2026-01-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Optic Atrophies, Hereditary, Wolfram Syndrome 1

Keywords

WFS1, Wolfram syndrome, hereditary optic neuropathy

Brief 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.

Interventions

OTHERanalyse study

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

Study design

Observational model

CASE_CONTROL

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* WFS1 mutation

Exclusion criteria

* WFS2 mutation

Design outcomes

Primary

Measure	Time frame	Description
Visual acuity at the last visit	The last visit will be registered regardless of the time elapsed since the onset of the disease, considered as a baseline	Comparison of visual acuity at the last visual between the 2 groups

Secondary

Measure	Time frame	Description
Evolution of visual acuity	Measurement at the occurence of the disease considered as baseline and at the last visit	We only take in account the first visual assessments and the delay from the occurrence of the OA as well as the last visual assessment when possible and the delay between those two examinations.
Age	At the occurence of the disease considered as baseline	Age of the patient at the occurrence of the disease
Global RNFL thickness	Measurement at the occurence of the disease considered as baseline and at the last visit	Comparison of the global RNFL thickness according to the group and delay from occurence of the disease

Contacts

Primary Contactchristophe orssaud, MD

christophe.orssaud@aphp.fr33 1 56 09 34 66

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026