Goldmann-Favre病の2例

Two cases of Goldmann-Favre disease

　Goldmann-Favre病の2例を報告した．症例1は24歳女性，症例2は50歳女性である．両者とも両親が血族婚であり，症例2については兄がやはり夜盲を訴えていたことから常染色体性劣性遺伝形式が疑われた．生来の夜盲，ERG所見，硝子体所見，眼底所見，白内障の存在より本症と診断された．本症と網膜色素変性症との鑑別はときに困難であるが，報告した2例にみられた円形の黒色色素沈着および格子状変性様所見は両者の鑑別上重要と考えられた．

Two females, 24 and 50 years of age, manifested typical ocular features of Goldmann-Favre disease. Both were offsprings of consanguineous marriage. Night blindness had persisted since childhood. In both cases, there were central retinoschisis. Peripheral retinoschisis was present in case 1. Other funduscopic features were similar in both cases : scattered round black pigments and whitish reticular networks in the equator. The vitreous was liquefied with coarse strands and optically empty spaces. Visual field studies showed annular scotoma and depression of inner isoptors with relative central scotoma. Acquired dyschromatopsia was present. Adaptometry showed markedly elevated final threshold. ERG responses were diminished in case 1 and extinguished in case 2.

Rinsho Ganka (Jpn J Clin Ophthalmol) 40(5) : 525-529,1986