Eye Condition Phenotypes

This collection consists of phenotypes for patients with eye diseases, which encompass a wide array of disorders affecting visual acuity, ocular structures, and eye movement. These include refractive errors (e.g., myopia), inflammatory conditions (e.g., uveitis), structural abnormalities (e.g., strabismus), and degenerative or inherited retinal disorders. Phenotype logic may involve diagnosis codes, results from vision screening tests, imaging procedures like optical coherence tomography (OCT), surgical codes (e.g., cataract extraction), and ophthalmology-specific clinical assessments. Example phenotypes include “Amblyopia,” defined by vision assessments and diagnostic codes in early childhood, and “Diabetic Retinopathy,” requiring both a diabetes diagnosis and fundoscopic exam results or procedure codes for laser therapy.