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 will be evaluated for correlation with the presence of homo- or heterozygosity for the disease trait. Patients will be given a trial of pyridoxine to see if serum concentration of ornithine can be reduced, and, if so, the patient will be classified as a """"""""responder,"""""""" and treatment with pyridoxine will be continued. Nonresponder and responder patients will be placed on a low arginine, low protein, diet with supplemental amino acids and observed for an arrest or improvement of their disease. If patients are not considered eligible for the diet or if they appear unable to comply with the dietary regimen they will be followed to record the natural progress of the condition. Patients with other forms of retinal degeneration, such as retinitis pigmentosa, fundus flavimaculatus, juvenile retinoschisis, are also examined and their courses are compared with gyrate atrophy patients.
| Gasch, A T; Kaler, S G; Kaiser-Kupfer, M (1999) Menkes disease. Ophthalmology 106:442-3 |
