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)

We conducted a study to determine the prevalence of central islands after refractive excimer laser surgery and the factors associated with their occurrence. A VISX Twenty/Twenty excimer laser was used to perform 157 photorefractive keratectomy (PRK) and 263 photorefractive astigmatic keratectomy (PARK) procedures. Corneal topography was assessed in 156 patients three months postoperatively using a topographic analysis system. Central islands were seen in 67% of patients; 26% had islands of 3.0 diopters (D) or more in height. Occurrence was associated with the laser suction nozzle being fixed during the procedure (P < .05). There was no demonstrable effect of central islands on visual acuity or refractive outcome, nor was there any relation to the amount of attempted correction or type of procedure (PARK or PRK). Central islands with a curvature difference of less than 3.0 D were seen more frequently than an absence of islands, suggesting these may be a "normal" postoperative topographic variation. The effect of nozzle position on island formation suggests that plume removal or corneal hydration may be important, as is corneal epithelial healing.
J Cataract Refract Surg 1995 Jan
PMID:Prevalence of central islands after excimer laser refractive surgery. 772 93

The current study reports active glycosidases in the lens of ICR/f rats, which generate a hereditary cataract approximately 90 d after birth, and the variation in enzyme activity with cataract progression. Seven active glycosidases, beta-D-galactosidase, alpha-D-glucosidase, beta-D-glucosidase, beta-D-glucuronidase, beta-D-galactosaminidase, beta-D-glucosaminidase and alpha-D-mannosidase, were detected in ICR/f rat lenses. Of these, beta-D-glucuronidase and beta-D-galactosidase showed a tendency to increase in activity with the cataract progression. Furthermore, beta-D-glucosidase and alpha-D-mannosidase showed a transitory increase in activity at the time of cataract formation. This result suggests that several glycosidases in the lens may be involved in the hereditary cataract formation. The optimal pH and temperature of the seven active glycosidases in rat lenses were also measured in this study.
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PMID:Variation in glycosidase activity in soluble fractions in ICR/f rat lenses with the progression of cataract formation. 1007 42

Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). With next-generation sequencing in three independent families, we identified four different mutations in GBA2 (three truncating variants and one missense variant), which were found to cosegregate with the disease and were absent in controls. GBA2 encodes a microsomal nonlysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide to free glucose and ceramide and the hydrolysis of bile acid 3-O-glucosides. The missense variant was also found at the homozygous state in a simplex subject in whom no residual glucocerebrosidase activity of GBA2 could be evidenced in blood cells, opening the way to a possible measurement of this enzyme activity in clinical practice. The overall phenotype was a complex HSP with mental impairment, cataract, and hypogonadism in males associated with various degrees of corpus callosum and cerebellar atrophy on brain imaging. Antisense morpholino oligonucleotides targeting the zebrafish GBA2 orthologous gene led to abnormal motor behavior and axonal shortening/branching of motoneurons that were rescued by the human wild-type mRNA but not by applying the same mRNA containing the missense mutation. This study highlights the role of ceramide metabolism in HSP pathology.
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PMID:Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. 2333 16