Cherry Red Spot

Done by: Loulwah MukhareshIntern at King Abdulaziz University

Etiology• The characteristic pale hueheavy deposition

of lipid, sphingolipid, or oligosaccharides in the ganglionic cells of the retina at the macula.

• In the center of the pale region lies the foveal pit which lacks ganglion cellscontinues to retain its reddish appearance.

History• 1887 by Bernard Sachs “arrested development with special

reference to its cortical pathology”.• Neuropathologic examination confirmed lipid storage disease

in the brain in a child.• This child was also seen by Herman Knapp, an

ophthalmologist who practiced in NY and Berlin and described the retinal features of this child at an ophthalmology meeting at Heidelberg and was the first to use the term “cherry-red color” to describe the fovea.

• Subsequently the child was found to have Tay Sachs disease.• Knapp had initially thought that the cherry-red spot was a

benign finding but later realized its grave implications.

Differential Diagnosis

• It is also seen in other neurometabolic diseases as well as in central retinal artery occlusion.

Differential Diagnosis of “Cherry red spot”Central retinal artery occlusionFarber lipogranulomatosisGalactosialidosisGM1 gangliosidosisGM2 gangliosidosisGoldberg syndromeMacular hemorrhageMetachromatic leukodystropyMultiple sulfatase deficiencyNiemann-Pick disease types A, B, C, and DPoisoning (methanol, quinine, dapsone)Sandhoff diseaseSialidosis types I and IITay-sach’s diseaseWolman disease

Controversy

• The cherry-red spot may become less prominent over time, concurrent with loss of the affected peri-macular ganglion cells.

• Because the cherry-red appearance of the retina is characteristic only of Caucasians, and because the retinal complexion differs based on ethnicity, it was suggested that the term “peri-foveal white patch” may be more appropriate than cherry-red spot.

Caucasian child with a cherry

“red” spot

Tay-Sachs disease

Canadian aboriginal child with a cherry “brown” spot

Sandhoff disease

East Indian child with a

cherry “black” spot

Sandhoff disease

References

• “Cherry-red spot” or “perifoveal white patch”? Luis H. Ospina et al., Can J Ophthalmol 2005;40:609–10

• The “Cherry Red” Spot, Jacqueline A. Leavitt et al. Pediatric Neurology Volume 37 (1) Elsevier – Jul 1, 2007

• UpToDate

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