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.
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.
Study Type
OBSERVATIONAL
Enrollment
45
Retrospective analyse and study of recorded data of patients with wolfram syndrome or recessive optic atrophy due to WFS1 mutation
Visual acuity at the last visit
Comparison of visual acuity at the last visual between the 2 groups
Time frame: The last visit will be registered regardless of the time elapsed since the onset of the disease, considered as a baseline
Evolution of visual acuity
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.
Time frame: Measurement at the occurence of the disease considered as baseline and at the last visit
Age
Age of the patient at the occurrence of the disease
Time frame: At the occurence of the disease considered as baseline
Global RNFL thickness
Comparison of the global RNFL thickness according to the group and delay from occurence of the disease
Time frame: Measurement at the occurence of the disease considered as baseline and at the last visit
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