Eye Presentations

Presentations where the eye is the entry point: lens opacity, corneal haze, iris or chorioretinal defects, retinal degeneration, optic nerve abnormalities. Many systemic genetic disorders present first through the eye (galactosemia and cataract; CHARGE and coloboma; storage disease and corneal clouding), so the ophthalmologist or pediatrician's first finding may be the only opportunity to catch a treatable condition early. Reasoning is anatomy-first: locate the abnormality within the visual axis, then ask which systemic disorder it belongs to.