Title of article :
A rare ophthalmologic disorder: Gyrate atrophy with sparse hair
Author/Authors :
Namazi, Nastaran Skin Research Center - Shahid Beheshti University of Medical Sciences, Tehran , Golfeshan, Atefe Skin Research Center - Shahid Beheshti University of Medical Sciences, Tehran , Saghi, Bita Skin Research Center - Shahid Beheshti University of Medical Sciences, Tehran
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.
Keywords :
gyrate atrophy , ornithine , ophthalmology , alopecia
Journal title :
Iranian Journal of Dermatology