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Cherry Red Spot in Sialidosis (Mucolipidosis Type I)
J. Wesley Heroman, MD;
Paul Rychwalski, MD;
Charles C. Barr, MD
Arch Ophthalmol. 2008;126(2):270-271.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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The differential diagnosis of a cherry red spot in the macula includes central retinal artery occlusion and metabolic storage diseases such as Tay-Sachs disease, Sandhoff disease, Niemann-Pick disease, Fabry disease, Gaucher disease, and sialidosis. We report a case of an adolescent who, at a routine ophthalmic examination, was found to have a cherry red spot in the maculae of both eyes. Laboratory investigation results showed that the patient had mucolipidosis type I, which is a rare lysosomal storage disease with clinical and histologic findings similar to the mucopolysaccharidoses and the sphingolipidoses.
Report of a Case
A 14-year-old white boy complained of difficulty seeing the blackboard at school. A screening eye examination found decreased distance vision in both eyes. He was of normal intelligence and his medical history was significant only for scoliosis and seasonal allergies. Visual acuity corrected to 20/20 OU. Results of . . . [Full Text of this Article] Comment
Conclusions
AUTHOR INFORMATION
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