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Mastocytosis is a rare condition characterized by an accumulation of mast cell cells in one or more organs such as the liver, bone marrow, spleen and intestines. Its prevalence in the general population is 1 in 10,000.
This pathology is due to the proliferation of a mast cell clone and the excessive release of inflammatory mediators which lead to abnormal tissue infiltration.
To date, there are only a few cases reporting ocular and orbital manifestations of mastocytosis.
Our prospective, interventional and single-center study consist in describing the ocular functional manifestations and ocular surface abnormalities of patients with systemic and cutaneous mastocytosis.
Patient with systemic or cutaneous mastocytosis will be included in the study. Data about organ involvement of mastocytosis will be collected. Participants will be screened with a medical and eye disease history. They will also have an eye exam.
Participants will provide a tears sample.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Participants affected by cutaneous and systemic mastocytosis | Experimental | Participants affected by cutaneous and systemic mastocytosis with or without eye disabilities |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Ophthalmological examination | Other | Eye examination : Ocular tonometry to determine intraocular pressure Refraction assessment Retina examination Slit lamp examination Visual acuity Schirmer's test Corneal topography Funduscopic examination Optical coherence tomography |
| Measure | Description | Time Frame |
|---|---|---|
| Proportion of Subjects with mastocytosis presenting eye abnormalities | Number of patients with functional complaints or abnormalities of the surface, orbit, anterior and posterior segment of the eyeball. | up to 2 hours |
| Measure | Description | Time Frame |
|---|---|---|
| Nature and Frequency of eye abnormalities | Details of functional complaints, abnormalities of various specialized examinations such as ocular tonometry to determine intraocular pressure, Refraction assessment, Retina examination, Slit lamp examination, Visual acuity, Schirmer's test, Corneal topography, Funduscopic examination, Optical coherence tomography | up to 2 hours |
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Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Masson Regnault | Poitiers | New Aquitaine | 86000 | France |
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| ID | Term |
|---|---|
| D000090362 | Mast Cell Activation Disorders |
| D000090267 | Mast Cell Activation Syndrome |
| D014582 | Urticaria Pigmentosa |
| ID | Term |
|---|---|
| D007154 | Immune System Diseases |
| D034701 | Mastocytosis, Cutaneous |
| D008415 | Mastocytosis |
| D009372 | Neoplasms, Connective Tissue |
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| Risk factor of eye abnormalities | Significative association with a mastocytosis subtype or certain organ involvements or biological abnormalities | up to 2 hours |
| D018204 | Neoplasms, Connective and Soft Tissue |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D012878 | Skin Neoplasms |
| D009371 | Neoplasms by Site |
| D010859 | Pigmentation Disorders |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |