Introduction
- In 1881, British ophthalmologist Warren Tay published his groundbreaking observation of a cherry-red spot on the retina of a child suffering from a neurological disorder.
- Term first used in 1887 by Bernard Sachs in a paper on “arrested development with special reference to its cortical pathology.” Sachs described the fundus of a child with “amaurotic familial idiocy,”
- The condition was later identified as Tay-Sachs disease.
- Herman Joseph Knapp:
- An ophthalmologist who first used the term “cherry red color” at an ophthalmology meeting in Heidelberg.
- Initially thought the finding was benign but later recognized its serious implications.
Pathophysiology
- Underlying cause:
- Pale perifoveal retina due to deposition of lipids, sphingolipids, or oligosaccharides in ganglion cells.
- Retained red appearance of the fovea because it lacks ganglion cells, allowing the choroidal vasculature to remain visible.
Clinical Associations
Metabolic Storage Diseases