Concepedia

Fundal Abnormalities of Gaucher's Disease

D. G. Cogan, Fred C. Chu, John W. Gittinger, Lawrence Tychsen

Archives of Ophthalmology · 1980 · 43 citations · 6 references

DOI

Abstract

The evidence for cherry-red maculas in Gaucher's disease is questionable, but in occasional patients, scattered white spots in and on the retina appear to be characteristic. These white spots consist of clusters of swollen histiocytes (Gaucher cells).

References

6

Clinical Neuro-ophthalmology

British Journal of Ophthalmology · 1970 · 1.1K citations · Full text

Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease

Roscoe O. Brady, Julian N. Kanfer, David J. Shapiro · Biochemical and Biophysical Research Communications · 1965 · 802 citations

, , +4

DISEASES OF THE NERVOUS SYSTEM IN INFANCY, CHILDHOOD AND ADOLESCENCE

Frank R. Ford · The American Journal of the Medical Sciences · 1937 · 535 citations

, , +14

Cherry Red Spot Myoclonus Syndrome

Mohammad Soleimani, Kasra Cheraqpour, Hossein Ghahvehchian · Neuro-Ophthalmology · 2019 · 95 citations · Full text

Neuraminidase deficiency in the cherry red spot-myoclonus syndrome

John S. O’Brien · Biochemical and Biophysical Research Communications · 1977 · 92 citations

, , +6