Cherry Red Spot Done by Loulwah Mukharesh Intern

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 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

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 • Up. To. Date

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