網膜異形成を伴った先天性前部ぶどう腫の1例

A case of congenital anterior staphyloma with retinal dysplasia

　生下時に片眼性の先天性前部ぶどう腫と診断されたが，その後角膜穿孔を来したため眼球摘出を行った1例を報告した．全身的には，Fallot四徴症，肺動脈弁欠損症，肺ヘルニア，尿道下裂，耳介形成不全を認めたが染色体異常はみられなかった．形態学的には，典型的な前眼部発生異常にあわせて，網膜異形成と脈絡膜にも形成異常を認めたので，発生異常により生じた先天性前部ぶどう腫と病理学的に診断した．

A newborn male child manifested corneal opacity and anterior staphyloma in his right eye in addition to tetralogy of Fallot, pulmonary valvular defect, herniation of the umbilical cord, hypospadia and dysplasia of the external eye. He was the product of normal gestation and delivery. He was free of hereditary or chromosomal abnormalities. The right eye had to be enucleated at 58 days of age because of corneal perforation.

Histopathology showed absence of corneal en-dothelium and the membranes of Bowman and Descemet. The lens was apparently normal. While the vitreous and the retina did not manifest grossabnormalities, there was hypoplasia of the outer segment of photoreceptor cells with fresh retinal hemorrhage at the fovea. Retinal detachment with fresh choroidal hemorrhage was present in the equator. In the peripheral retina, the photoreceptor cells had disappeared associated with atrophy of retinal pigment epithelial cells and absence of fenestration in the choriocapillaris. The overlying-sensory retina was gliotic with one-layer rosettes. In the central lumen of the rosettes, there were pigment-containing cells with lysosomes in the cytoplasm, suggesting their origin as macrophages or retinal pigment epithelial cells.

Rinsho Ganka (Jpn J Clin Ophthalmol) 41(12) : 1329-1333,1987