Ocular and Palpebral Manifestations of Mastocytosis (MOOMA)

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Ocular and Palpebral Manifestations of Mastocytosis (MOOMA)

Conditions
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Mast Cell Disease, Mast Cell Activation Disease, Mast Cell Activation Syndrome, Urticaria Pigmentosa

Intervention / Treatment
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* Other: Ophthalmological examination


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Screening
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Participants affected by cutaneous and systemic mastocytosis<br>Participants affected by cutaneous and systemic mastocytosis with or without eye disabilities | Other: Ophthalmological examination<br>* 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<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 | 

Secondary Outcome Measures

| Outcome Measure | 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 | 
| Risk factor of eye abnormalities | Significative association with a mastocytosis subtype or certain organ involvements or biological abnormalities | up to 2 hours |