Identification of Cellular Biomarkers of Rare Eye Diseases in Adults

"Uncorrected visual acuity (UCVA), best-corrected visual acuity (BSCVA), corneal topography, corneal pachymetry, ocular surface pictures (to evaluate disease status of the eye with and without fluorecein), Schirmer's test, Corneal esthesiometry, Tear film break-up time test, Intraocular pressure.~Below is a summary of steps to perform ocular surface pictures of the cornea.~1. Ensure slit lamp cleaning and appropriate magnification and light settings.~2. Ensure comfortable positioning of both the operator and the patient.~3. Examine external orbital structures and adnexa for inflammation, irritation, or lesions.~4. Examine lids and lashes for abnormalities.~5. Examine both bulbar and palpebral conjunctiva for signs of irritation and injection.~6. Examine the cornea for clarity and the presence of any defect.~7. Examine the anterior chamber depth and evaluate abnormalities that might affect its transparency (blood, purulent material, cells and flare).~8. Examine the surface of the iris an"

Ocular Surface Disease Index (OSDI) questionnaire, Visual Analog Pain Scale (VAS) questionnaire

Blood samples from RED patients or control group are collected in BD Vacutainer K2 EDTA.

Put one drop of oxybuprocaine hydrochloride 0.4% in patients' eyes and wait 10 seconds. Gently apply both side of one sterile nitrocellulose membrane onto the unexposed bulbar conjunctiva, superotemporally, inferotemporally, superonasally, and inferonasally, for approximately 20 seconds, please, keep the eyes separated.

One sterile minisponge per eye will be placed over the lids margin at the junction of the lateral and middle thirds of the lower eyelids and kept in place for 2 minutes. During application of sponges the patient needs to look up to facilitate the procedure. To avoid excessive tear reflex, as well as a mild discomfort, it is recommended that patients close their eyes during the collection. Remove sponge using sterile tweezers and put it into empty 0.5mL tube (pierced at the bottom with a sterile needle) placed into another empty 1.5 mL tube and keep it on ice until processing.