Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the aetiology and pathogenesis of senile cataract a disturbed glucose utilisation is found. This reflects a loss of activity of some key enzymes for glycolysis in the lens. These enzymes (ALD, G6PDH, HK, LDH, MDH and phosphofructokinase) are zinc metal enzymes. The decrease in activity of these enzymes can be compensated by the administration of specific cations. With zinc one can improve the impaired glucose metabolism occurring in old age. For the prophylaxis and therapy of senile cataract the prolonged administration of zinc aspartate is indicated. In the presence of magnesium deficiency magnesium salts should also be given. Cation eliminating exogenous or endogenous factors must be taken into consideration.
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PMID:[Clinical biochemical aspects of the prophylaxis and therapy of senile cataract with zinc aspartate (author's transl)]. 9 66

The topographic distribution of enzyme activities in normal rat lenses and their changes occurring during naphthalene cataract development were investigated. Cataract formation was documented by slit images according to the Scheimpflug principle. Before the onset of visible changes and after the development of early visible opacities, the animals were sacrificed, their lenses removed and biochemically analyzed. The lenses were divided reproducibly into 6 parts--the equatorial ring and 5 layers of central cylinders from the anterior to the posterior cortex. The enzyme activity spectra (AR, SDH, GR, GPX, PFK, ALD, GAP-DH, and LDH) showed region-related patterns, which could not be detected with analysis of the total lens. Image analysis of the first signs of opacity showed that changes in the activities of several enzymes correlate with density changes in the corresponding lens layers.
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PMID:Enzymatic distribution patterns of rat lenses and the changes that occur during naphthalene cataract development. 160

Several childhood multisystem disorders with prominent ophthalmological manifestations have been ascribed to the malfunction of the peroxisome, a subcellular organelle. The peroxisomal disorders have been divided into three groups: 1) those that result from defective biogenesis of the peroxisome (Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum's disease); 2) those that result from multiple enzyme deficiencies (rhizomelic chondrodysplasia punctata); and 3) those that result from a single enzyme deficiency (X-linked adrenoleukodystrophy, primary hyperoxaluria type 1). Zellweger syndrome, the most lethal of the three peroxisomal biogenesis disorders, causes infantile hypotonia, seizures, and death within the first year. Ophthalmic manifestations include corneal opacification, cataract, glaucoma, pigmentary retinopathy and optic atrophy. Neonatal adrenoleukodystrophy and infantile Refsum's disease appear to be genetically distinct, but clinically, biochemically, and pathologically similar to Zellweger syndrome, although milder. Rhizomelic chondrodysplasia punctata, a peroxisomal disorder which results from at least two peroxisomal enzyme deficiencies, presents at birth with skeletal abnormalities and patients rarely survive past one year of age. The most prominent ocular manifestation consists of bilateral cataracts. X-linked (childhood) adrenoleukodystrophy, results from a deficiency of a single peroxisomal enzyme, presents in the latter part of the first decade with behavioral, cognitive and visual deterioration. The vision loss results from demyelination of the entire visual pathway, but the outer retina is spared. Primary hyperoxaluria type 1 manifests parafoveal subretinal pigment proliferation. Classical Refsum's disease may also be a peroxisomal disorder, but definitive evidence is lacking. Early identification of these disorders, which may depend on recognizing the ophthalmological findings, is critical for prenatal diagnosis, treatment, and genetic counselling.
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PMID:The peroxisome and the eye. 171 72

Histopathologic studies of the eyes of one patient (a boy who died at 14 years of age) with childhood adrenoleukodystrophy and two patients (girls who died at 24 and 31 months of age) with neonatal adrenoleukodystrophy showed the accumulation of the characteristic bileaflet inclusions in optic nerve macrophages, retinal neurons, and macrophages and loss of ganglion cell and nerve fiber layer. Additionally, in the two cases of neonatal adrenoleukodystrophy, changes resembling early retinitis pigmentosa were found, with accumulation of characteristic inclusions in the retinal pigment epithelium and pigment-laden macrophages. One of the patients with neonatal adrenoleukodystrophy also had an anterior subcapsular cataract and cystoid macular edema.
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PMID:Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy. 629 71