De Laey J J, Heintz B, Pollet L
Department of Ophthalmology, University Hospital, Ghent, Belgium.
Ophthalmic Paediatr Genet. 1992 Jun;13(2):73-6. doi: 10.3109/13816819209087607.
A 13-year-old boy presented with juvenile X-linked retinoschisis and in the right fundus a typical retinal angioma situated at the temporal site of the macula. A maternal uncle and a maternal grand uncle were known to be also affected by juvenile retinoschisis. Family history was negative for retinal angiomatosis. Extensive internal, neurologic and radiologic examinations did not reveal associated neurologic or visceral involvement in the affected child. The association of a retinal angioma and juvenile X-linked retinoschisis is most probably fortuitous.
一名13岁男孩患有青少年X连锁视网膜劈裂症,右眼眼底黄斑颞侧有一个典型的视网膜血管瘤。已知其一位舅舅和一位叔祖父也患有青少年视网膜劈裂症。家族史中无视网膜血管瘤病。对该患病儿童进行的全面内科、神经科和放射学检查未发现相关的神经或内脏受累情况。视网膜血管瘤与青少年X连锁视网膜劈裂症的关联很可能是偶然的。