Macular Cherry-Red Spot, Corneal Clouding, and ß-Galactosidase Deficiency

Goldberg, Morton F.

doi:10.1001/archinte.1971.00310210063005

Cited by 80 publications

(25 citation statements)

References 50 publications

(3 reference statements)

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“…Many reports described diffuse fine opac ities in the deep layer of the corneal stroma [9][10][11][12][13][14][15][16][17][20][21][22]. The same opacities were detect ed in our cases, although the corneal endo thelium was almost normal.…”

Section: Discussionsupporting

confidence: 75%

“…In 1971 Goldberg et al [9] reported a case of a new neuronal storage disease which could not be fitted precisely into the sphingolipidoses or mucopolysaccharidoses. They described a macular chcrry-red spot, corneal clouding and a slight paleness of the optic disk bilaterally.…”

Section: Discussionmentioning

confidence: 99%

“…A high proportion of pa tients with this disease is of Japanese descent [8]. In 1971 Goldberg et al [9] presented a case of this disease. They reported a cherry-red spot of the macula, corneal clouding and optic disk paleness.…”

Section: Introductionmentioning

confidence: 99%

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Adult-Form Galactosialidosis: Ocular Findings in Three Cases

Usui

Takagi²,

Abe³

et al. 1991

Ophthalmologica

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We reported ocular findings of 3 patients with adult-form galactosialidosis. Diffuse fine opacities in the deep layer of the corneal stroma, an obscure cherry-red spot of the macula and optic nerve atrophy were noted in all cases. Punctate lenticular opacities were observed in 2 cases. Slowly progressive visual disturbance was seen in all cases, and it might be due to secondary optic nerve atrophy caused by retinal ganglion cell death.

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Section: Discussionsupporting

confidence: 75%

Section: Discussionmentioning

confidence: 99%

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Adult-Form Galactosialidosis: Ocular Findings in Three Cases

Usui

Takagi²,

Abe³

et al. 1991

Ophthalmologica

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“…Moreover, fl-glucosidase levels are lower in oral mucosa than in the epidermis of the same species ( 19). Whereas fl-glucosidase activity has been quantitated previously in a number of epidermal preparations (20)(21)(22)(23)(24)(25)(26)(27), we recently demonstrated that the bulk ofthis activity is fl-glucocerebrosidase (f3-GlcCer'ase) and that it is localized largely to the outer epidermis and stratum corneum ( 1 1). Although these prior studies suggest that extracellular processing ofglycosphingolipids may be important for the development of barrier integrity, proof of this hypothesis has been lacking.…”

Section: Introductionmentioning

confidence: 93%

Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function.

Holleran¹,

Takagi²,

Menon³

et al. 1993

J. Clin. Invest.

245

201

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The interstices of the mammalian stratum corneum contain lipids in a system of continuous membrane bilayers critical for the epidermal permeability barrier. During the transition from inner to outer stratum corneum, the content of polar lipids, including glucosylceramides, decreases while ceramide content increases. We investigated whether inhibition of glucosylceramide hydrolysis would alter epidermal permeability barrier function. Daily topical applications of bromoconduritol B epoxide (BrCBE) to intact murine skin selectively inhibited fl-glucocerebrosidase, increased glucosylceramide content of stratum corneum with ceramide content remaining largely unchanged, and caused a progressive, reversible decrease in barrier function. Histochemistry of inhibitor-treated epidermis revealed persistence of periodic acid-Schiff-positive staining in stratum corneum cell membranes, consistent with retention of hexose moieties. Electron microscopy of inhibitor-treated samples revealed no evidence of toxicity or changes in the epidermal lipid delivery system. However, immature membrane structures persisted in the intercellular spaces throughout the stratum corneum, with reappearance of mature membrane structures progressing outward from the lower stratum corneum upon termination of BrCBE. Finally, the induced barrier abnormality was not reversed by coapplications of ceramide. These data demonstrate that glucosylceramide hydrolysis is important in the formation of the epidermal permeability barrier, and suggest that accumulation of glucosylceramides in stratum corneum intercellular membrane domains leads to abnormal barrier function. (J. Clin. Invest. 1993.91:1656-1664

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“…On electron microscopy, cytoplasmic vacuoles were seen in hepatic Kupffer cells and the activity of b-galactosidase was significantly decreased in skin biopsy specimens. Subsequently he was also found to be deficient for sialidase (Goldberg et al, 1971).…”

Section: Galactosialidosismentioning

confidence: 99%

Sialic Acid Storage Disease and Related Disorders

Strehle¹

2003

Genetic Testing

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This paper gives an overview of the two sialic acid storage disorders, Salla disease and infantile sialic acid storage disease, and the related disorders cystinosis, sialuria, sialidosis, and galactosialidosis. Sialic acid storage disease and cystinosis are models for a deficient lysosomal transport of monosaccharides and amino acids, respectively. Several gene mutations leading to the production of the faulty membrane proteins sialin and cystinosin have been identified in recent years. Knowledge of the underlying pathophysiology is a prerequisite for future research projects, which will focus on the expression of the disease genes in living systems and the physical characterization of these proteins by X-ray crystallography and nuclear magnetic resonance spectroscopy.

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Macular Cherry-Red Spot, Corneal Clouding, and ß-Galactosidase Deficiency

Cited by 80 publications

References 50 publications

Adult-Form Galactosialidosis: Ocular Findings in Three Cases

Adult-Form Galactosialidosis: Ocular Findings in Three Cases

Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function.

Sialic Acid Storage Disease and Related Disorders

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