Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients
| Autor: | F B Gibberd, K G Claridge, M C Sidey |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Pathology genetic structures Phytanic acid Visual Acuity Disease Cataract chemistry.chemical_compound Cataracts Retinitis pigmentosa medicine Humans Aged Retrospective Studies Cerebellar ataxia business.industry Middle Aged medicine.disease Chronic Polyneuropathy eye diseases Phytanic Acid Ophthalmology Refsum disease chemistry Female Refsum Disease medicine.symptom Visual Fields business Retinitis Pigmentosa Retinopathy |
| Zdroj: | Eye (London, England). 6 |
| ISSN: | 0950-222X |
| Popis: | Refsum disease (heredopathia atactica polyneuritiformis) was first described in 1946 and is a rare recessively inherited metabolic disease affecting phytanic acid metabolism. It causes retinitis pigmentosa, cataracts, a chronic polyneuropathy, cerebellar ataxia and cardiac arrhythmias amongst other clinical signs. By limiting dietary intake, plasma phytanic acid levels fall with an improvement in the neurological signs. The onset of retinitis pigmentosa usually precedes biochemical diagnosis by several years by which time the retinal damage is severe. A series of 23 patients have been reviewed. There was an average delay of 11 years (range 1-28 years) between the patient presenting to the ophthalmologist and being diagnosed as having Refsum disease. Although serial examinations have failed to show a definite change in the course of visual deterioration with treatment, early diagnosis is important to prevent the development of neurological disease. |
| Databáze: | OpenAIRE |
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