Patients with gyrate atrophy of the choroid and retina are examined systematically to confirm the diagnosis. Skin fibroblasts of affected patients and family members are grown in tissue culture and assayed for ornithine aminotransferase activity. The results are evaluated for correlation with the presence of homozygosity or heterozygosity for the disease trait. Each patient is given a trial of pyridoxine to see if serum concentration of ornithine can be reduced; if so, the patient is classified as a """"""""responder"""""""" and treatment with pyridoxine is continued. Nonresponder and responder patients are then placed on a low-arginine, low-protein diet with supplemental amino acids and observed for arrest or improvement of the disease. If patients are not considered eligible for the diet, or if they appear unable to comply with the dietary regimen, they are followed to record the natural progression of the condition. Patients with other forms of retinal degeneration such as retinitis pigmentosa, fundus flavimaculatus, juvenile retinoschisis, and Usher's syndrome, are also examined and their courses are compared with those of gyrate atrophy patients.
| Gasch, A T; Kaler, S G; Kaiser-Kupfer, M (1999) Menkes disease. Ophthalmology 106:442-3 |
