Identification of Cellular Biomarkers of Rare Eye Diseases in Adults

Inclusion Criteria

• •Patient group:
• •Women and men with age equal or higher than 18 years (patients planning to conceive may be included in the study)
• •Willingness and ability to read and understand the informed consent.
• •Diagnosis (including genotype, if needed) of REDs.
• •Affiliation with a social security scheme or beneficiary of such a scheme.
• •RED 1 - AAK Diagnosis criteria
• •Compatible slit lamp examination (iris/pupillary abnormalities, with or without corneal opacification, vascularization, cataract, glaucoma). with or without:
• •Foveal hypoplasia and optic disc malformations as detected through fundus examination or OCT tomography
• •Compatible anterior segment OCT or high-frequency ultrasound biomicroscopy (UBM)
• •Positive genetic testing
• •RED 2 - NK Diagnosis criteria
• •Compatible history and slit lamp findings of one of the three stages of the Mackie classification (I - punctate keratopathy; II - persistent epithelial defect; III - stromal involvement)
• •Reduced/absent corneal sensitivity
• •Exclusion of infectious or toxic etiologies with or without:
• •confocal microscopy findings
• •RED 3 - LSCD Diagnosis criteria
• •Compatible history and slit lamp examination (e.g. corneal conjunctivalization with persistent epithelial defects, loss of limbal anatomy or irregular staining with fluorescein) with or without:
• •confocal microscopy findings
• •RED 4 - OCP Diagnosis criteria
• •Compatible slit lamp examination
• •Exclusion of infectious or toxic etiologies with or without:
• •conjunctival /oral biopsy with characteristic mucous pemphigoid findings
• •RED 5 - OC GVHD Diagnosis criteria • Compatible history and slit lamp examination consistent with one of 4 grades of ocular GVHD (1 - conjunctival hyperemia, 2 - fibrovascular changes \<25% of palpebral conjunctiva, 3 - fibrovascular changes \>25%, 4 - \>75% or cicatricial entropion)
• •RED 6 - EEC Diagnosis criteria
• •Compatible slit lamp examination
• •Compatible systemic findings with or without:
• •Positive genetic testing
• •RED 7- CNV Diagnosis criteria
• •Compatible slit lamp examination of corneal stromal neovascularization (1-4 quadrants)
• •Exclusion of infectious or toxic etiologies with or without:
• •confocal microscopy findings
• •Control group:
• •Women and men with age equal or higher than 18 years (patients planning to conceive may be included in the study).
• •Willingness and ability to read and understand the informed consent.
• •Non-diagnosis of REDs.
• •Affiliation with a social security scheme of beneficiary of such a scheme.