Normo-Ornithinemic Gyrate Atrophy

Joy Abigail G. Simon, MD, Jocelyn L. Sy, MD, Lorena Capinpin, MD

University of Santo Tomas Hospital

Objective: To present a case of gyrate atrophy with normal serum ornithine levels

Methodology: A case report of a 43-year-old female with six year history of gradual blurring of vision. No night blindness. Visual acuity of the right eye was 10/200 and 20/100 for the left. Amsler, Ishihara, external eye, motility, slit lamp biomicroscopy and applanation tonometry was normal. Fundus exam showed lobular patches of chorioretinal atrophy on the superior and inferior periphery of both eyes. Fluorescein angiography, visual field function tests and electroretinography were done.

Results: Fluorescein angiogram showed mild staining at the margin of lesions. Visual field test revealed superior and inferior defects for both eyes. Electroretinography revealed an abnormal ERG study for the right eye, showing absent cone but normal rod responses. The ERG study for left eye was normal. Serum ornithine test done showed a level of 66umol/L with the normal values ranging from 47 to 97.

Conclusion: This is a case of normo-ornithinemic gyrate atrophy.