Hayasaka S, Shiono T, Konno T, Tateda H
Jpn J Ophthalmol. 1982;26(4):443-6.
A Japanese infant was found to have abdominal distension at the age of 4 weeks. A diagnosis of galactosemia was made at 8 weeks of age. Dietary management completely reversed the hepatosplenomegaly and ceased the progression of lens opacities. Mental retardation was also noted at a later age. We believe this is the first reported case of galactose cataract in Japan confirmed enzymatically.