Index
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.
- Time-dependent changes:
- Cherry-red spot may fade as surrounding ganglion cells atrophy.
- Ethnic variability:
- Retinal pigmentation differences may obscure the finding.
- Suggested alternative term: “perifoveal white patch” for non-Caucasian populations.
Clinical Associations
Metabolic Storage Diseases
- Tay-Sachs disease (GM2 gangliosidosis)
- Sandhoff disease
- Sialidosis (types I and II)
- Galactosialidosis
- GM1 gangliosidosis
- Goldberg syndrome
- Metachromatic leukodystrophy
- Niemann-Pick disease (types A, B, C, and D)
- Farber lipogranulomatosis
- Multiple sulfatase deficiency
- Wolman disease
Vascular Causes
- Central retinal artery occlusion (CRAO):
- Retinal ischemia causing pale perifoveal tissue, with the unaffected fovea maintaining its reddish appearance.
- Traumatic retinal ischemia
Other Causes
- Poisoning: Dapsone-related toxic optic neuropathy.
- Mimics:
- Macular hemorrhage
- Macular hole
Diagnostic Challenges
- Roving eye movements:
- Blindness-related movements can obscure the finding.
- May require dilated eye examination under general anesthesia in pediatric cases.
- Over time:
- Cherry-red spot becomes less prominent as ganglion cells degenerate.
Differential Diagnosis
- True cherry-red spot:
- Pale perifoveal retina with a distinct reddish fovea.
- Mimicking conditions:
- Macular hemorrhage
- Macular hole (due to red contrast without systemic implications).
Diagnostic Workup
- Enzyme assays:
- To identify lysosomal or metabolic enzyme deficiencies.
- Genetic testing:
- For definitive diagnosis and family counseling.
- Neuroimaging (MRI):
- To detect associated neurodegenerative changes.
- Electroretinography (ERG):
- Functional assessment of the retina.
Management and Prognosis
- Metabolic storage diseases:
- Supportive care remains primary.
- Emerging therapies (e.g., enzyme replacement and gene therapy) show promise.
- Vascular causes:
- Acute interventions may restore blood flow in ischemic cases.
- Multidisciplinary care:
- Involves neurology, genetics, ophthalmology, and supportive therapies.
Conclusion
- The cherry-red spot is a critical diagnostic clue for systemic metabolic, storage, and vascular disorders.
- Early recognition can guide diagnosis, initiate appropriate management, and provide family support.
- Integrating ophthalmologic and neurologic expertise is key to optimizing patient outcomes.
References
Sachs B. On arrested cerebral development, with special reference to cortical pathology. J Nerv Ment Diseases 1887;14: 541-53.
Tay, W. (1969). Symmetrical changes in the region of the yellow spot in each eye op an infant. Archives of Neurology, 20(1), 104–106. https://doi.org/10.1001/archneur.1969.00480070114014