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Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia

Gyrate atrophy (GA) of the choroid and retina with hyperornithinaemia is a rare inherited autosomal recessive metabolic disease. It is due to a mitochondrial enzymatic deficiency in ornithine-amino-transferase (OAT), leading to hyperornithinaemia. Most frequently, ocular findings are clinically isolated and spread to blindness. Associated muscular weakness is rare.

The present case is that of a patient, from a consanguineous Turkish marriage and the third of seven brothers and sisters, who developed, at age 15 years, loss of night vision with bilateral retinopathy, myopia and cataract. Ophthalmological symptoms progressively worsened. At the age of 18 years, mild proximal weakness appeared in the right arm and slowly spread to the four limbs. At the age of 33 years, he had proximal muscular atrophy of the lower limbs without pain. Clinical examination showed marked bilateral atrophy and mild weakness of the gluteus maximus, and detachment of the shoulder blades. There was no sensitive symptom, reflexes were normal, and there was no sign of central nervous system involvement.

Visual acuity was estimated to be 6/30 (right eye) and 6/15 (left eye). Fundoscopy revealed …