A rare ophthalmologic disorder: Gyrate atrophy with sparse hair

Abstract

Gyrate atrophy (GA) is a rare, progressive metabolic choroid and retinal degeneration that results from a deficiency of the pyridoxal phosphate-dependent mitochondrial matrix enzyme ornithine aminotransferase. Here, we report the case of a 40-yearold woman who presented with a gradual decline in visual acuity since puberty, along with a history of high myopia and cataract surgery. She was admitted to the Dermatology Clinic with chief complaints of sparse hair on her scalp, eyelids, eyebrows and other areas of the body for the previous 5 years. Physical examination showed that scalp hair along with hair from other parts of her body were fine, straight, and sparse with areas of non-well defined alopecia. Hyperornithinemia was documented during laboratory evaluation of the patient.