Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients with maternally inherited diabetes and deafness (MIDD) have insulin-dependent diabetes with relatively low BMI; usually the onset of the diabetes is during the third or fourth decade of life and it is associated with progressive neurosensory deafness. The fundus shows circumferentially oriented but discontinuous patches of RPE and choriocapillaris (CC) atrophy around the macula, within the arcades (Figs. 31.1 and 31.2). Sometimes even hyperpigmentation can be seen, also around the optic nerve, or pattern-like dystrophy may occur. Vision is usually good, about 20/40 or better. Fundus autofluorescence (FAF) shows decreased AF in the areas of RPE atrophy, surrounded by a zone of speckled AF. No generalized retinal dysfunction is seen on full-field electroretinography (ERG), but pattern ERG or multifocal ERG shows abnormal function. Asymptomatic maternal relatives harboring the mutation may show pigmentary changes, hearing loss, and in some, diabetes. Another disorder associated with the same A3243G mitochondrial DNA (mtDNA) mutation as MIDD is Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episodes (MELAS). The stroke-like episode (such as hemiplegia) occurs at about 5-15 years of age, and severe encephalopathy may cause death at a young age. Patients may also experience headache, vomiting, visual field defects, or cortical blindness.
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PMID:Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness. 3057 4

Purpose: To present the association between posterior reversible encephalopathy (PRES) syndrome due to preeclampsia and bilateral serous retinal detachment (SRD) accompanied by intraretinal fluid configuration. Methods: A 24-year-old woman, at 28 weeks of gestation presented with blurred vision bilaterally related to bilateral SRD involving the center of the macula accompanied by intraretinal fluid. The patient was diagnosed as pre-eclampsia accompanied by PRES syndrome. The patient approved and underwent delivery the same day. On day 9, ophthalmologic examination revealed complete resolution of SRD and normal visual acuity bilaterally and cranial MRI showed complete resolution of the vasogenic edema with medical treatment. Conclusion: SRD and accompanying retinal edema must be considered among etiological factors leading to sudden vision loss in patients with preeclampsia and PRES syndrome. Abbreviations: PRES = Posterior reversible encephalopathy, SRD = Serous retinal detachment, SD-OCT = Spectral-domain optical coherence tomography, RPE = Retinal pigment epithelium, CSC = Central serous chorioretinopathy, ONL = Outer nuclear layer, INL = Inner nuclear layer, IPL = Inner plexiform layer, RNFL = retinal nerve fiber layer.
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PMID:Bilateral serous retinal detachment accompanied by a rare intraretinal fluid configuration in preeclampsia and PRES Syndrome. 3119 2

Lysosome-associated membrane protein-2 (LAMP2), is a highly glycosylated lysosomal membrane protein involved in chaperone mediated autophagy. Mutations of LAMP2 cause the classic triad of myopathy, cardiomyopathy and encephalopathy of Danon disease (DD). Additionally, retinopathy has also been observed in young DD patients, leading to vision loss. Emerging evidence show LAMP2-deficiency to be involved in oxidative stress (ROS) but the mechanism remains obscure. In the present study, we found that tert-butyl hydroperoxide or antimycin A induced more cell death in LAMP2 knockdown (LAMP2-KD) than in control ARPE-19 cells. Mechanistically, LAMP2-KD reduced the concentration of cytosolic cysteine, resulting in low glutathione (GSH), inferior antioxidant capability and mitochondrial lipid peroxidation. ROS induced RPE cell death through ferroptosis. Inhibition of glutathione peroxidase 4 (GPx4) increased lethality in LAMP2-KD cells compared to controls. Cysteine and glutamine supplementation restored GSH and prevented ROS-induced cell death of LAMP2-KD RPE cells.
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PMID:Lysosome-associated membrane protein-2 deficiency increases the risk of reactive oxygen species-induced ferroptosis in retinal pigment epithelial cells. 3167 77