Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome.

Tittarelli, R; M, Giagheddu; Spadetta, V

doi:10.1136/bjo.50.7.414

Cited by 18 publications

(2 citation statements)

References 5 publications

(1 reference statement)

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“…Related sphingolipidoses such as Tay-Sachs,66 infantile form of Sandhoff disease,67 Niemann-Pick disease types A and B,68 Galactosialidosis,69 Metachromatic Leukodystrophy,70 and Krabbe disease71 are characterised by a cherry red spot. Except for one case report72 and citation of a case where cherry-red spots were observed in a 20-year-old female with GD,73 74 there are no other reported cases in patients with GD.…”

Section: Discussionmentioning

confidence: 99%

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder

et al. 2019

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Gaucher disease (GD) results from a deficiency of glucocerebrosidase activity and the subsequent accumulation of the enzyme’s metabolites, principally glucosylsphingosine and glucosylceramide. There are three principal forms: Type I, which is the most common, is usually considered non-neuronopathic. Type II, III and IIIc manifest earlier and have neurological sequelae due to markedly reduced enzyme activity. Gaucher’s can be associated with ophthalmological sequelae but these have not been systematically reviewed. We therefore performed a comprehensive literature review of all such ophthalmic abnormalities associated with the different types of Gaucher disease. We systematically searched the literature (1950 – present) for functional and structural ocular abnormalities arising in patients with Gaucher disease and found that all subtypes can be associated with ophthalmic abnormalities; these range from recently described intraocular lesions to disease involving the adnexae, peripheral nerves and brain. In summary, Gaucher can affect most parts of the eye. Rarely is it sight-threatening; some but not all manifestations are amenable to treatment, including with enzyme replacement and substrate reduction therapy. Retinal involvement is rare but patients with ocular manifestations should be monitored and treated early to reduce the risk of progression and further complications. As Gaucher disease is also associated with Parkinsons disease and may also confer an increased risk of malignancy (particularly haematological forms and melanoma), any ocular abnormalities should be fully investigated to exclude these potential underlying conditions.

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Section: Discussionmentioning

confidence: 99%

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder

et al. 2019

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“…The age of onset is usually in the second decade, and the presenting features are visual defect, cherry-red spot ( fig. 2), lens or corneal opacity [18,19], These ocular signs are associated at a second stage with ataxia, myoclonus, generalized seizures. The myoclonus is generalized, very debilitating and poorly controlled by medication.…”

Section: Clinical Presentationmentioning

confidence: 99%

Cherry-Red Spot Myoclonus Syndrome (Type I Sialidosis)

et al. 1991

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The authors report the sequence of the clinical symptoms in type I sialidosis or cherry-red spot myoclonus syndrome, derived from the cases personally observed and from the literature. They also report neuropathological and neurochemical data. A serial EEG study in a case shows the tendency to a progressive deregulation of cerebral electric activity. Therapeutic attempts to reduce myoclonus, which is one of the more disabling symptoms in this syndrome, are described.

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

Goldberg¹

1971

Arch Intern Med

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A new syndrome which combines clinical features of several storage diseases (mucopolysaccharidoses, sphingolipidoses, and mucolipidoses), but which is nonetheless unique, is characterized by autosomal recessive inheritance and the presence of dwarfism, gargoyle facies, mental retardation, seizures, corneal clouding, macular cherry-red spot, \g=b\-galactosidase deficiency, dysostosis multiplex, and hearing deficit. It is also characterized by the absence of clinically enlarged organs, vacuolated blood cells, and mucopolysacchariduria.

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Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome.

Cited by 18 publications

References 5 publications

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder

Cherry-Red Spot Myoclonus Syndrome (Type I Sialidosis)

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

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