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Macular Cherry-Red Spot and Corneal Haze in Sialidosis (Mucolipidosis Type 1)

Morton F. Goldberg, MD
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Copyright 2008 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

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Arch Ophthalmol. 2008;126(12):1778-1778. doi:10.1001/archopht.126.12.1778-a
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The February 2008 article1 on sialidosis (mucolipidosis type 1) correctly states that a characteristic duo of clinical findings (cherry-red spot in the macula as well as haze in the corneal stroma) occurs in this storage disease, combining the individual clinical signs that characterize other storage disorders; specifically, the sphingolipid storage diseases (typically, cherry-red spot) and the mucopolysaccharide storage diseases (typically, corneal haze).

Corneal haziness was not described in the February publication, but, as the original article describing sialidosis showed,2 stromal haze is integral to the syndrome, just as macular cherry-red spot is. The mildness of the corneal haze results in its easily being overlooked in sialidosis. It would be of interest to know, therefore, if the case of sialidosis reported in the first reference did or did not have subtle haziness of the corneal stroma in addition to the obvious cherry-red spot in the macula.

AUTHOR INFORMATION

Correspondence: Dr Goldberg, 727 Maumenee Bldg, The Wilmer Ophthalmological Institute, 600 N Wolfe St, Baltimore, MD 21287-9278 (mgoldbrg@jhmi.edu).

Financial Disclosure: None reported.

REFERENCES

Heroman  JW, Rychwalski  P, Barr  CC. Cherry red spot in sialidosis (mucolipidosis type 1). Arch Ophthalmol 2008;125 (2) 270- 271
PubMed
Thomas  GH, Goldberg  MF, Miller  CS, Reynolds  LW. Neuraminidase deficiency in the original patient with the Goldberg syndrome. Clin Genet 1979;16 (5) 323- 330
PubMed

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Heroman  JW, Rychwalski  P, Barr  CC. Cherry red spot in sialidosis (mucolipidosis type 1). Arch Ophthalmol 2008;125 (2) 270- 271
PubMed
Thomas  GH, Goldberg  MF, Miller  CS, Reynolds  LW. Neuraminidase deficiency in the original patient with the Goldberg syndrome. Clin Genet 1979;16 (5) 323- 330
PubMed

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