Mast Cell Activation Disease, Mast Cell Activation Syndrome, Mast Cell Disease, Urticaria Pigmentosa
Conditions
Brief summary
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.
Detailed description
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.
Interventions
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
Sponsors
Poitiers University Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Have a diagnosis of mastocytosis * Male or female, 18 years of age and over * Ability to understand and provide written informed consent.
Exclusion criteria
* Disorders that do not allow good visualization of the posterior pole (cataract, intravitreal hemorrhage) * Patients with another ocular pathology that may bias the results (corneal dystrophy, dysthyroid orbitopathy, retinal pathologies) * History of refractive surgery
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Proportion of Subjects with mastocytosis presenting eye abnormalities | up to 2 hours | Number of patients with functional complaints or abnormalities of the surface, orbit, anterior and posterior segment of the eyeball. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Nature and Frequency of eye abnormalities | up to 2 hours | 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 |
| Risk factor of eye abnormalities | up to 2 hours | Significative association with a mastocytosis subtype or certain organ involvements or biological abnormalities |
Countries
France
Outcome results
None listed