Weaver R G, Cashwell L F, Lorentz W, Whiteman D, Geisinger K R, Ball M
Department of Ophthalmology, Wake Forest University, Winston-Salem, North Carolina.
Am J Med Genet. 1988 Mar;29(3):597-605. doi: 10.1002/ajmg.1320290318.
Optic nerve colobomas can occur as sporadic abnormalities, may be inherited as an autosomal dominant defect, occur as part of syndromes, and are rarely associated with cardiac malformations and midline encephaloceles. Karcher [1979] described a father and son with the "morning glory" optic disc anomaly and renal disease as a new association. We report on two brothers with optic nerve colobomas associated with renal disease. The ophthalmologic findings and renal histopathology are presented. This second familial occurrence suggests that the association of optic nerve coloboma and renal disease is a newly recognized syndrome.
视神经缺损可表现为散发性异常，可能作为常染色体显性缺陷遗传，作为综合征的一部分出现，并且很少与心脏畸形和中线脑膨出相关。卡彻 [1979] 描述了一位父亲和儿子患有 “牵牛花” 视盘异常和肾病，作为一种新的关联。我们报告了两兄弟患有与肾病相关的视神经缺损。本文展示了眼科检查结果和肾脏组织病理学。这第二例家族性病例表明，视神经缺损与肾病的关联是一种新发现的综合征。
