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Ophthalmology and Visual Sciences

Gyrate atrophy

Gyrate atrophy

Category(ies): Genetics, Inherited Eye Disease, Retina
Contributor: Jesse Vislisel, MD

Gyrate atrophy is an autosomal recessive disease resulting from a deficiency of ornithine aminotransferase. By the second decade of life, patients exhibit scalloped areas of choroidal and retinal atrophy that begin peripherally and progresses toward the posterior pole. The diagnosis is supported by increased plasma and urine ornithine levels.

OMIM #258870