Central regional total choroidal vascular atrophy in Japanese patient

We examined an infant whose rare fundus changes were similar to those seen in the early stage of gyrate atrophy of the choroid and retina, or in Aicardi's syndrome. The slightly larger than normal and whitish optic disk, mottled posterior pole of the retina and several atrophic patches around the optic disk were found ophthalmoscopically. These lesions were bilaterally symmetric. Hyperornithinemia was not noted. A CT scan of the brain was normal, and agenesis of the corpus callosum was not found. Convulsions and spasms did not occur. To our knowledge, this is the first reported case of central regional total choroidal vascular atrophy in Japan.