par Libert, Jacques 
Référence Journal français d'ophtalmologie, 1, 11, page (699-710)
Publication Publié, 1978
Référence Journal français d'ophtalmologie, 1, 11, page (699-710)
Publication Publié, 1978
Article révisé par les pairs
| Résumé : | Metabolic storage diseases involving lysosomes can be divided into two groups, those which are hereditary, and those which are acquired, accidental or iatrogenic. About 30 hereditary lysosomal storage diseases have been recognised, and these are caused by genetically determined absence or insufficiency of certain enzymes. Ophthalmologists have an important role to play in diagnosis of these diseases, since the symptoms of the eye are often those which first draw attention to the disease. According to the disease, the clinical signs found in the eye may include corneal clouding, retinal pigment degeneration, optic atrophy, presence of a cherry-red spot, vascular tortuosities, and choroidal white dots. At our present state of knowledge the only effective method of treatment of these serious metabolic disorders is preventive medicine. Study of amniotic cells allows determination of whether the foetus is affected or not, and enables a decision as to whether the pregnancy should be terminated. Diagnosis of the disease depends on a combination of biochemical and histopathological methods and the combination of analysis of tears and of corneal biopsy is the easiest solution. Acquired lysosomal storage diseases can be caused by inorganic materials (iron, silicon, thorium, asbestos), macromolecules (polyvinylpyrrolidone) or micromolecules such as certain drugs (chloroquine, fenfluramine). Provided that administration of the causative agent is stopped before serious effects arise, acquired storage diseases can be considered reversible. However, irreversible pigmentary maculopathy can arise with prolonged drug administration. |
