Cherry Red Spot
Done by: Loulwah Mukharesh
Intern at King Abdulaziz University
Etiology
• The characteristic pale hueheavy 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 cellscontinues 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
Differential Diagnosis of “Cherry red spot”
Central retinal artery occlusion
Farber
lipogranulomatosis
• It is also
seen
in other neurometabolic
Galactosialidosis
diseases
as well as in central retinal artery
GM gangliosidosis
occlusion.
GM gangliosidosis
1
2
Goldberg syndrome
Macular hemorrhage
Metachromatic leukodystropy
Multiple sulfatase deficiency
Niemann-Pick disease types A, B, C, and D
Poisoning (methanol, quinine, dapsone)
Sandhoff disease
Sialidosis types I and II
Tay-sach’s disease
Wolman 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
Canadian
aboriginal child
with a cherry
“brown” spot
East Indian
child with a
cherry “black”
spot
Tay-Sachs
disease
Sandhoff
disease
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
Thank you!