Macular degeneration in a Japanese patient with aceruloplasminemia

To characterize the clinical features of a Japanese patient with macular degeneration in aceruloplasminemia.

The clinical features were evaluated by visual acuity measurements, fluorescein angiography, electroretinography, and kinetic visual field testing.

We observed a Japanese patient with macular degeneration in aceruloplasminemia. This patient also had diabetes mellitus and neurodegeneration. Ocular examination showed macular degeneration, which included yellow deposits around the macula area and no foveal reflex.

It has been reported that Japanese patients with aceruloplasminemia have atrophy of the retinal pigment epithelium in the midperipheral area and yellowish discoloration of the fundus. However, the retinal findings and results of fluorescein angiography in our case were very similar to those for a white patient. We suggest that retinal degenerations in Japanese patients with aceruloplasminemia have clinical variability. We believe that impairment of iron metabolism caused by iron overload in the retina led to retinal degeneration in this case.