COL4A1遺伝子異常により網膜血管異常を呈した1例

Retinal vascular disorders in a case of COL4A1 mutation

要約　目的：Procollagen type Ⅳ alpha 1（COL4A1）遺伝子異常に網膜血管異常が併発した症例の報告。症例：在胎41週，体重2,086gで出生した女児が，生後3日目に受診した。妊娠5週目に母体が熱発し，妊娠24週目に超音波検査で側脳室の拡大があった。出生直後に側脳室の拡大，脳梗塞，脳出血があった。所見：水晶体混濁があり，出生3か月目に両眼に白内障手術を行った。両眼に網膜動静脈の白線化，網膜出血，硝子体出血があった。生後5か月目にCOL4A1遺伝子異常が発見された。生後8か月目に網膜下出血，血管の白線化，網脈絡膜萎縮が確認された。結論：本症例での網膜動静脈の閉塞と硝子体出血には，COL4A1遺伝子異常が関係していると推定される。

Abstract.　Purpose：To report a case of mutation of procollagen type Ⅳ alpha 1（COL4A1）associated with retinal vascular disorders. Case：A 3-day-old female infant was referred for pathological central nervous system disorders. Her mother had an episode of fever at 5 weeks of pregnancy. Dilatation of lateral ventricles was detected at 24 weeks of pregnancy. Cerebral infarction and hemorrhage were detected shortly after birth. Findings：Both eyes showed cataract. Surgery was performed at 3 months of age. Both eyes showed sheathing of retinal arteries and veins with retinal and vitreous hemorrhage. Mutation of COL4A1 was detected 5 months after birth. Both eyes showed subretinal hemorrhage, sheathing of vessels, and chorioretinal atrophy 8 months after birth. Conclusion：Mutation of COL4A1 may have been causatively related with the observed retinal vascular disorders.