Scientists hunt for biomarkers to unlock rare eye disease treatments

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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. Exclusion Criteria: Patient group: * Pregnancy, breastfeeding (in case any stress was caused to the woman by the biological sampling). * Descemetocele/impending corneal perforation. * Recent (less than 3 months) ocular surgery. * Recent (less than 1 month) change in topical medications type and frequency of the ocular pathology. * Persons subject to a legal protection measure (under guardianship, curatorship or safeguard of justice) Control group: * Pregnancy, breastfeeding. * Active ocular infection. * Descemetocele/impending corneal perforation. * Recent (less than 3 months) ocular surgery. * Recent (less than 1 month) change in topical medications type and frequency of the ocular pathology. * Persons subject to a legal protection measure. (under guardianship, curatorship or safeguard of justice)