Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?
نویسندگان
چکیده
منابع مشابه
Cherry red spot in sialidosis (mucolipidosis type I).
tial for posterior dislocation of the donor corneal disc in aphakic eyes must be taken into consideration. Longer-lasting, higher-buoyancy gases (such as SF6) could be used as alternatives to air, but the possible toxic effect to endothelial cells should be elucidated. Correspondence: Dr Yoo, Cornea and External Diseases, Bascom Palmer Eye Institute, 900 NW 17th St, Miami, FL 33136 (syoo@med .m...
متن کاملFundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis.
BACKGROUND Sialidosis is a rare lysosomal storage disorder characterized by deficiency of alpha-N-acetyl neuraminidase. The macular cherry-red spot, which could be important for diagnosis, is a distinctive feature of its ocular manifestation. We evaluated the fundus autofluorescence (FAF) and optical coherence tomography (OCT) images of a juvenile patient who presented with vision decrease and ...
متن کاملAdult Onset Familial Cherry-Red Spot Myoclonus
We report a case of a 36-year-old woman with progressive generalized myoclonus that first became apparent 9 years ago. Her younger brother had similar problems. Examination of her eyes revealed cherry-red spots. Hexosaminidase A, β-galactosidase and neuraminidase activity were normal. Although the laboratory findings were negative, cherry-red spots, progressive myoclonus and autosomal recessive...
متن کاملSialidosis type I: ophthalmological findings.
Sialidosis is a lysosomal storage disease caused by deficit of neuraminidase. It is an autosomal recessive disease, heterogeneous in its onset, presentation and prognosis. We report a case of a male patient with molecular and enzymatic confirmation of the diagnosis. Symptoms began at age 26 with reduced visual acuity, bilateral cherry-red spots and later myoclonus. A brother, now deceased, had ...
متن کاملType I sialidosis: a clinical, biochemical and neuroradiological study.
We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of the fourth ventricle. Nuclear magneti...
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ژورنال
عنوان ژورنال: Journal of Movement Disorders
سال: 2021
ISSN: 2005-940X,2093-4939
DOI: 10.14802/jmd.20083