Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The sialidoses are a group of storage disorders of autosomal recessive inheritance in which there is a deficiency of lysosomal neuraminidase (sialidase) activity and associated sialyloligosacchariduria. Patients with one type of sialidosis may present initially to the ophthalmologist because of a cherry-red spot at the macula. In most of these patients progressive neurologic deficits ultimately develop; myoclonus is a prominent feature. A patient with the so-called cherry-red spot--myoclonus syndrome is described who had a marked deficit of the ocular smooth pursuit system, with consequent nystagmus. His visual system was normal clinically and electrophysiologically despite the obvious storage in the retinal ganglion cells.
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PMID:Sialidosis: the cherry-red spot--myoclonus syndrome. 737 86

The authors report a 5-year follow-up examination of two sisters diagnosed as having a juvenile form of type II sialidosis. Diagnosis occurred during a routine ophthalmic examination when the girls were 5 and 3 years old after bilateral macular cherry-red spots were revealed. Main clinical findings were hypotonia, hepatosplenomegaly, hearing loss, dysostosis, and respiratory distress. Ophthalmic symptoms were low visual acuity and nystagmus. Spectral-domain optical coherence tomography examination showed increased reflectivity of the retinal ganglion cells. Sialidosis may present as a mild form with slow progression. The cherry-red spots may be the first clue for proper diagnosis of storage disease. Spectral-domain optical coherence tomography examination unveiled the accumulation of sialic acid in the retinal ganglion cells and could potentially be used to monitor the progression of storage diseases.
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PMID:Five year follow-up of two sisters with type II sialidosis: systemic and ophthalmic findings including OCT analysis. 2381 54