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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| wolfram syndrome | Patients according to the EuroWABB criterions of Wolfram syndrome and French national guidelines |
| |
| recessive optic atrophy | patients with an OA due to mutation of gene WFS1, whatever its age of occurrence, without any other clinical manifestation. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| analyse study | Other | Retrospective analyse and study of recorded data of patients with wolfram syndrome or recessive optic atrophy due to WFS1 mutation |
|
| Measure | Description | Time Frame |
|---|---|---|
| Visual acuity at the last visit | Comparison of visual acuity at the last visual between the 2 groups | The last visit will be registered regardless of the time elapsed since the onset of the disease, considered as a baseline |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | Measurement at the occurence of the disease considered as baseline and at the last visit |
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Inclusion Criteria:
Exclusion Criteria:
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patient from our rare disease reference center
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| christophe orssaud, MD | Contact | 33 1 56 09 34 66 | christophe.orssaud@aphp.fr |
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| ID | Term |
|---|---|
| D014929 | Wolfram Syndrome |
| D015418 | Optic Atrophies, Hereditary |
| ID | Term |
|---|---|
| D054062 | Deaf-Blind Disorders |
| D003638 | Deafness |
| D034381 | Hearing Loss |
| D006311 | Hearing Disorders |
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| Age |
Age of the patient at the occurrence of the disease |
| 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 | Measurement at the occurence of the disease considered as baseline and at the last visit |
| D004427 |
| Ear Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D009896 | Optic Atrophy |
| D009901 | Optic Nerve Diseases |
| D003389 | Cranial Nerve Diseases |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D012678 | Sensation Disorders |
| D009461 | Neurologic Manifestations |
| D001766 | Blindness |
| D014786 | Vision Disorders |
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D003919 | Diabetes Insipidus |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D003922 | Diabetes Mellitus, Type 1 |
| D003920 | Diabetes Mellitus |
| D044882 | Glucose Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D004700 | Endocrine System Diseases |
| D010900 | Pituitary Diseases |