Cockayne症候群（典型例3例と非典型例1例）について

Cockayne's syndrome. Three typical cases and an atypical case

　我々は典型的なCockayne症候群3例と典型的とはいえない1例を経験し，全身所見および眼科的所見を報告するとともに，本邦の報告例を主として集めたなかから，典型的なCockayne症候群の眼科的所見の特長について考察した。

　また全身所見では，日光過敏症を重視する必要を述べ，できれば皮膚のfibroblast cultureによる紫外線に対する感受性を検討することが，今後この疾患の本態の解明に役立つと共に，鑑別診断の根拠となる可能性があることを強調した。

We observed 3 typical cases and one atypical case of Cockayne's syndrome. The typical cases were an 8-year-old boy, a 9-year-old girl and a 4-year-old boy. The latter two cases were siblings. The atypical case was a 19-year-old girl. We tried to formulate the opthalmological features of typical Cockayne's syndrome based on our 3 typical cases, 7 cases reported in Japan and 2 cases each de-scribed by Cokaync and Neil.

The typical opthalmological features seem to be fundus changes simulating salt-and-pepper without pigment clumps, optic atrophy, diminished tear secretion, resistance to mydriatics and alternat-ing exotropia.