Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the findings of single photon emission computed tomography using 123I-IMP and magnetic resonance image studies of five patients with Charles Bonnet syndrome (CBS) while they were having visual hallucinations. All patients developed complex visual hallucinations after suffering from eye disease. The mean age at onset of CBS was 71.6 years. Single photon emission computed tomography studies in all patients disclosed hyperperfusion areas with some asymmetrical appearances in the lateral temporal cortex, striatum and thalamus. These results suggest that when elderly people suffer from eye disease, subsequent excessive cortical compensation in the lateral temporal cortex, striatum and thalamus may precipitate the development of visual hallucinations.
 ...
PMID:Hyperperfusion in the lateral temporal cortex, the striatum and the thalamus during complex visual hallucinations: single photon emission computed tomography findings in patients with Charles Bonnet syndrome. 1080 9

We present a case of asymmetrical but bilateral, progressive, painless visual deterioration over 5 years to no perception of light, in a 61-year-old male diabetic patient referred for a second opinion. The patient had a chronic history of bilateral diabetic maculopathy and unexplained swelling of the optic discs. He was diagnosed with optic atrophy secondary to pseudotumour cerebri (termed idiopathic intracranial hypertension when underlying causes have been excluded), which was associated with obstructive sleep apnoea. The case highlights the critical importance of identifying and investigating chronic papilloedema for reversible causes; the sometimes subtle presentation of pseudotumour cerebri; and the vital role of visual field testing and diagnostic lumbar puncture for timely diagnosis. It also reminds us that chronic bilateral optic disc swelling is not a normal feature of diabetic eye disease, and that alarm bells should sound if reduced visual acuity seems disproportionate to the degree of maculopathy.
 ...
PMID:Chronic optic disc swelling overlooked in a diabetic patient with a devastating outcome. 2244 51

Keratoconus (KC) is a non-inflammatory eye disease characterized by progressive corneal thinning and asymmetrical conical protrusion of the cornea. Fuchs endothelial corneal dystrophy (FECD) is a degenerative, slowly progressive disease of the corneal endothelium that is characterized by alteration in corneal endothelial cell morphology and progressive loss of these cells. They are unrelated eye diseases that may ultimately lead to vision loss. Their pathogenesis is largely unknown, although impaired apoptosis has been suggested to be responsible for both diseases. Therefore, we studied the frequency of the c.-671A>G polymorphism of the apoptosis-related FAS gene and the c.-844T>C polymorphism of the FAS ligand (FASLG) gene in patients with FECD (221 individuals) or KC (264) and controls (300). Each polymorphism is located within the putative cis-acting element of the respective promoter. Risk of KC or FECD was estimated with unconditional multiple logistic regression with adjustment for various factors, including age, sex, allergies, and family history. The T/T genotype and the T allele of the c.-844T>C polymorphism were associated with increased occurrence of KC, while the C allele was associated with decreased KC occurrence. The G allele of the c.-671A>G polymorphism was associated with increased occurrence of FECD, while the A allele was associated with decreased FECD occurrence. The C/C-A/A combined genotype was associated with reduced risk of FECD, whereas the T/T-G/A combined genotype increased risk of KC. In conclusion, variability in the expression of the FAS and FASLG genes may be involved in the pathogenesis of KC and FECD.
...
PMID:Polymorphisms of the apoptosis-related FAS and FAS ligand genes in keratoconus and Fuchs endothelial corneal dystrophy. 2516 82