Gyrate atrophy of the choroid and retina is a rare metabolic autosomal recessive disease, due to ornithine-amino-transferase deficiency, responsable for hyperornithinemia. We report the case of a turkish patient, that presented at age of 15 a loss of night vision with hesperanopia. At age of 34, because of proximal weakness, he decided to consult a neurologist. Apart from proximal muscular weakness and marked gluteal atrophy, neurological examination was normal. Muscular biopsy revealed tubular aggregates. Opthalmological examination showed a typical pattern of gyrate atrophy and seric level of ornithine were very high. A treatment based on daily Pyridoxine oral administration and poor Arginine diet was proposed. The main clinical feature of hyperornithinemia is represented by chorioretinal atrophy that leads to blindness during the fifth decade. However, muscular weakness can be present, and the diagnostic of hyperornithinemia has to be considered, when myopathy with sarcoplasmic tubular aggregates is associated with ophtalmological symptoms.
- gyrate atrophy
- tubular aggregates