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)

A Norwegian family showed 20 cases of verified or suspected diabetes in 5 generations, 13 being females and 7 males. In 12 patients the diagnosis was established at 26 years of age or earlier. Fourteen patients were definitely non-insulin-dependent. A high frequency of severe diabetic ophthalmopathy was noted, five patients were blind, two had proliferative retinopathy, and one simplex retinopathy and cataract. Five patients from the last 3 generations were islet cell antibody negative and C-peptide positive. In selected patients the serum insulin response to oral glucose was markedly reduced. HLA determinations in these patients showed absence of DR3 and DR4, and presence of DR2. The inheritance of diabetes in this family is compatible with an autosomal, dominant trait, and the majority of cases fulfilled the criteria of maturity-onset diabetes of the young. The high frequency of severe ophthalmopathy underscores that this disease may have an unfavourable evolution.
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PMID:Maturity-onset diabetes of the young. Studies in a Norwegian family. 264 41

Sixty-one renal transplant patients were studied for ocular complications of steroid therapy. Twenty patients (32.8%) were found to have posterior subcapsular cataract. Three patients (4.9%) had ocular hypertension. There was no significant correlation between cataract formation and the total dose of steroids, number of rejection episodes, or the period of hemodialysis. HLA-A9 was present in noncataract patients to a greater extent, a statistically significant (P less than .05) finding not reported before to our knowledge.
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PMID:Ocular side effects of systemic steroid therapy in renal transplant patients. 332 37

Diabetes mellitus is a major cause of visual impairment and blindness. Cataracts and retinal vascular abnormalities (retinopathy) are the major defects occurring in the eyes. The frequency of these defects increases with the duration of diabetes. Many believe that the occurrence of eye disease in children with diabetes is rare. Blurry vision, an early manifestation of cataractogenesis, occurs in nearly all children with diabetes. Retinopathy, which is extremely rare prior to puberty, occurs in 70-90% of adolescents with diabetes of more than 10 years' duration. Proliferative retinopathy and blindness due to diabetes also occur in adolescents. Regular, careful ophthalmologic examinations by retinal specialists are indicated for the adolescents at risk. Those at risk are adolescent females with HLA DR3 and DR4 as well as those with limited joint mobility. Early recognition is essential to prevent the blindness that follows untreated proliferative retinopathy.
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PMID:Ophthalmologic complications of insulin-dependent diabetes mellitus in children and adolescents. 633 75

Fifty-four corneal grafts in 45 keratoconus patients have been followed for 3 to 12 years (average 5.8 years). The corneal clarity, visual acuity, incidence of immune rejections, relation to HLA compatibility, corneal thickness and endothelial cell density are reported. At the follow-up 98% (53 out of 54) of the grafts were clear. Visual acuity was greater than or equal to 0.67 in 72% of the cases. Suboptimal vision was due to cataract or large astigmatism. Rejection had occurred in 5 cases (10%). The graft thickness was found to decrease steadily, reaching subnormal values about 1/2 year after the operation. Six years after grafting, however, the thickness did not differ from that of normal corneas. The endothelial cell density in uncomplicated cases ranged from 450 to 3000 cells/mm2, decreasing with length of post-operative period. The HLA compatibility could not be shown to influence the endothelial cell density.
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PMID:Long term results of corneal grafting in keratoconus. 636 21

The eyes of 62 patients who had received allogenic renal transplants were examined for eye disease. Thirty-six patients were found to have steroid induced cataract. Six patients had ocular hypertension. Twelve patients showed arteriosclerotic changes in their fundi relating to their previous hypertensin. There was no significant difference in HLA type in patients who developed cataract and those who did not. 83.3% of the 6 patients with ocular hypertension had HLA B12 in common. None of the patients had cytomegalic retinitis.
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PMID:Ocular complications of systemic steroid after renal transplantation and their association with HLA. 704 56

A 62-year-old female had severe progressive ophthalmoplegia associated with facial, pharyngeal and limb muscle involvement. When 40, she had undergone surgery for bilateral cataract present for about 20 years. Biopsies of skeletal muscles indicated myopathy; histochemistry and electron microscopy gave evidence of abnormal mitochondria in type I fibres. Bilateral cataract needing surgical treatment at 32 was the prominent symptom in her daughter, then with only mild facial weakness. Despite absence of ophthalmoplegia, similar pathological changes were observed in an inferior oblique muscle. The child of the former, a 10-year-old clinically healthy boy, had been surgically treated for a bilateral cataract at the age of 3. As indicated by a review of literature, cataract is not an exceptional occurrence in this particular type of ocular myopathy and therefore should be included within its multisystem associations. The same HLA haplotype (A2-B21) was found in the three patients.
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PMID:Familial mitochondrial myopathy with cataract. 736 99

The only genetic disorder with elevated serum ferritin levels so far described is hereditary HLA-related haemochromatosis. On the other hand, hereditary cataract is both genotypically as well as phenotypically heterogenous, and no specific locus or any useful marker has been yet identified. We studied two Italian families in whom a combination of elevated serum ferritin not related to iron overload and congenital nuclear cataract is transmitted as an autosomal dominant trait. Affected individuals have normal serum iron and transferrin saturation, but high serum ferritin. Red cell counts are normal and venesection therapy rapidly produces iron-deficiency anaemia. This genetic disorder, which is characterized by hyperferritinaemia, differs from hereditary HLA-related haemochromatosis mostly for the absence of iron overload. A gene responsible for the congenital nuclear cataract likely maps on chromosome 19q close to the ferritin L-subunit gene. Within families with autosomal dominant congenital cataract, serum ferritin might be an early marker of disease.
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PMID:A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. 766 75

The success of marrow or blood stem cell transplantation may depend upon events arising months to years later. Transplant regimen related toxicity may include cataract formation due to corticosteroids or total body irradiation (TBI) and endocrine or gonadal dysfunction requiring hormonal replacement. By 15 to 20 years post-transplant, the cumulative incidence of secondary malignancies (including skin cancers) ranges from 4% (no TBI) to 14% (prior irradiation) in patients with previous aplastic anemia. Chronic graft versus-host-disease (GVHD) develops in 33% of HLA-identical sibling transplants and requires 1 to 2 years of immunosuppressive therapy. In allograft recipients free of GVHD, there are very few late infections or complications. These findings are confirmed by multidimensional studies of the quality of life of adult patients surviving 6 to 18 years after marrow transplantation and demonstrate that 80% of patients rate their quality of life as good to excellent and 5%, as poor. Considerations of late effects of transplant and maintenance of quality of life are key considerations when weighing the risks and benefits of stem cell grafts for the treatment of severe autoimmune diseases. Careful followup and reporting of these initial patient cohorts will be vital in determining the longterm success of stem cell transplantation.
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PMID:Longterm followup and quality of life after hematopoietic stem cell transplantation. 915 Jan 18

A new autosomal-dominant genetic disorder, which has been recently identified by our group is described. The disease is clinically characterized by the combination of a substantial increase of serum ferritin and early-onset bilateral cataract. Moreover, it is clearly distinguishable from genetic hemochromatosis because of: 1) normal to low serum iron and transferrin saturation, without evidence of parenchymal iron overload; 2) the dominant transmission; 3) the lack of any relation with HLA; 4) the rapid development of iron-deficient anemia when unnecessary phlebotomies are performed. The molecular basis of the new syndrome is a mutation in the L-subunit ferritin gene on chromosome 19 (19q13.3-->19qter). The mutation involves a five nucleotide sequence [CAGUG] of the iron-responsive-element (IRE), which is critical for the post-transcriptional regulation of ferritin synthesis by means of the binding with an Iron Regulatory Protein. As a consequence, ferritin synthesis is up-regulated, irrespective of cell iron status.
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PMID:["Hyperferritinemia-cataract syndrome." Description of a new hereditary disease, from anamnesis to molecular diagnosis]. 941 35

We describe a Thai family with three children, two of whom presented with Wolfram syndrome, which is a rare syndrome characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness and urinary tract dilatation. A girl and her younger brother had insulin-dependent diabetes mellitus at 11 years old with early onset of renal impairment, proteinuria and hypertension. Urinary tract dilatation was demonstrated in both patients. Kidney biopsies were compatible with diabetic nephropathy. Both children also had bilateral sensorineural hearing loss. Optic atrophy with severe loss of vision was detected in the girl and bilateral cataract in her brother. Both patients were HLA DR2 positive. At 16 years old, her creatinine clearance was 16 ml/min/1.73 m2. Her brother's creatinine clearance was 25 ml/min/1.73 m2 at 13 years old. We conclude that renal function should be evaluated in patients with Wolfram syndrome and the cause of renal failure in these patients may be rapid and severe diabetic nephropathy.
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PMID:Renal failure in two patients with Wolfram syndrome. 946 37


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