| fish-eye disease (aandoening) | | fish-eye disease | | Fish-eye disease | | Partial LCAT deficiency
Partial LCAT (lecithin-cholesterol acyltransferase) deficiency
FED - Fish-eye disease
| | A form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. The disease is very rare. Corneal opacities are progressive and are observed from an early age (adolescence or young adulthood) and sometimes result in visual impairment. These lesions are generally more severe than in complete LCAT deficiency and form a mosaic pattern of small dot-like gray-white opacities. Signs of atherosclerosis have only been reported in rare cases although patients have low HDL cholesterol levels. In patients with this disorder, alpha-LCAT activity is abolished, but beta-LCAT activity is preserved. Impaired enzyme function is thought to result in deposition of lipids in the cornea. The disease follows an autosomal recessive pattern of inheritance. |
| | Id | 238092004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E78.6 | | Term | Lipoproteïnedeficiëntie |
|
| SNOMED CT to Orphanet simple map | 79292 |
| SNOMED CT to ICD-10 extended map | | Target | E78.6 | | Rule | TRUE | | Advice | ALWAYS E78.6 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
