This patient has gyrate atrophy, a rare autosomal recessive retinal dystrophy characterized by extensive areas of lobular peripheral chorioretinal degeneration that gradually spread posteriorly.
Learning Points:
Gyrate atrophy is caused by a lack of a vitamin B6-dependent ornithine aminotransferase mitochondrial enzyme, which leads to elevated ornithine levels.
Vitamin B6 supplementation and an arginine-restricted diet may slow the disease progression in some patients.
End-stage gyrate atrophy can be indistinguishable from choroideremia. Other findings include myopia and night blindness.
