Cases reported "Eye Manifestations"

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1/4. Menkes' kinky hair disease: a light and electron microscopic study of the eye.

    light and electron microscopic studies of the ocular tissue of a case of Menkes' kinky hair disease are described. The copper deficiency responsible for this systemic and neurologic disease appears to cause a progressive degeneration of retinal ganglion cells, loss of nerve fibers, and optic atrophy. The pigment epithelium is also abnormal with only small and irregular melanin granules present among electron-dense inclusion bodies. Abnormal elastica is present in Bruch's membrane.
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ranking = 1
keywords = deficiency
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2/4. beta-galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature.

    Six juvenile and adult patients with progressive neurological diseases and beta-galactosidase deficiency were reported. Any diseases known to date were denied. These cases together with ten case reports in the literature were reviewed and were classified into three groups from clinical and biochemical points. Group 1 patients were characterized by progressive ataxia and myoclonus with gargoyl changes and macular cherry-red spots. In this syndrome beta-galactosidase activity seems to be secondarily affected by other biochemical defects. A group 2 patient showed similar neurological manifestations without gargoyle changes or macular cherry-red spots. patients with these clinical features not associated with beta-galactosidase deficiency have also been described in the literature. Group 3 patients had progressive pyramidal and extrapyramidal disease without gargoyl changes or macular cherry-red spots. These cases may represent juvenile and adult type GM1-gangliosidosis. Accumulation of GM1 has not yet been demonstrated.
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ranking = 6
keywords = deficiency
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3/4. vitamin e deficiency and thrombocytosis in Caffey's disease.

    An infant is described who presented with ptosis and periorbital oedema and was found to have infantile cortical hyperostosis with thrombocytosis, raised IgM, and vitamin e deficiency.
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ranking = 5
keywords = deficiency
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4/4. Ocular findings in mannosidosis.

    Three patients with typical features of mannosidosis and deficiency of alpha-mannosidase activity, who were examined ophthalmologically, had similar lenticular opacities. Corneal opacities were absent. Chamber angle and striking ophthalmoscopic anomalies occurred in two young patients who had normal electroretinograms. Two patients had strabismus. Conjunctival biopsy specimens morphologically confirmed the lysosomal nature of this disorder.
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ranking = 267337.43347198
keywords = mannosidosis, deficiency
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