Ocular and cerebral abnormalities in chromosome 18 deletion defect.
Ocular and cerebral abnormalities in chromosome 18 deletion defect.
复制标题
18 号染色体缺失缺陷导致眼部和大脑异常。
DOI：
10.1016/0002-9394(70)90100-5
复制
发表时间：
1970
影响因子：
4.2
通讯作者：
B. Niederer
中科院分区：
文献类型：
--
作者：
M. Yanoff;L. Rorke;B. Niederer
眼部病理学——肉眼观察，右眼尺寸为 10 x 10 x 10 毫米，半透明角膜尺寸为 2 x 2.S 毫米。眼球后侧面有 13 x 13 毫米的囊状结构（图 2）。水平睁开的眼睛显示出虹膜发育不良和未附着的视网膜。在后极区，巩膜和脉络膜的裂开允许眼睛内部与囊性结构的内腔相通。视网膜延伸穿过裂口。囊肿内壁光滑，有波纹，有光泽，有斑点状色素沉着。显微镜下，前房角显示出不成熟的结构，睫状体的经向肌肉插入发育不良的小梁网中。无法识别施累姆氏管。发育不全的虹膜显示括约肌发育不全，没有可识别的扩张肌，色素上皮中度增生。睫状体在一侧的平坦部前部含有发育不全的突起和色素上皮的小缺损。微小的血管完全包围了晶状体。囊上皮向后迁移，晶状体皮质前后退化。周边视网膜陷入晶状体后面的褶皱中，并显示出许多管状或花结结构和未成熟细胞（图3）。后部，囊状结构穿过视网膜色素上皮、脉络膜和巩膜的大缺损突出。囊肿内衬有单层上皮，某些区域有色素。未成熟的视网膜延伸到囊肿的前部。在脉络膜内缺损的一侧，可见平滑肌束（图 4）。与缺损前面相邻的是巩膜内软骨斑块（图 S）。右眼病理包括虹膜发育不全、前房角不成熟、晶状体持续性血管膜、白内障、脉络膜和巩膜以及视网膜和睫状体色素上皮缺损、视网膜发育不良、视网膜不附着、眼内平滑肌和软骨、小眼囊肿。宏观上，小左眼尺寸为 9 x 8 x 7 毫米，半透明角膜尺寸为 1 x 1S 毫米。眼球后外侧有一个 6 x S mm 的囊性结构（图 6）。水平睁开的眼睛显示虹膜发育不全和视网膜未附着。在后极区，巩膜和脉络膜裂开，使得眼睛内部与囊肿的内腔相通。囊肿内壁光滑，呈波纹状，有光泽，但无色素迹象。
Ocular pathology—Macroscopically, the right eye measured 10 x 10 x 10 mm with a semi-clear cornea measuring 2 x 2. S mm. On the posterior lat eral aspect of the globe was 13 x 13 mm cystic structure (Fig. 2). The horizontally opened eye showed a hypoplastic iris and a non attached retina. In the posterior polar area, a dehiscence in the sciera and the choroid permitted the interior of the eye to communicate with the lumen of the cystic structure. The retina extended through the dehis cence. The inner wall of the cyst was smoothly rip pled and shiny with spotty areas of pigmentation. Microscopically, the angle of the anterior cham ber showed an immature configuration with inser tion of the meridional muscles of the ciliary body into a poorly developed trabecular meshwork. Schlemm's canal could not be identified. The hypoplastic iris showed a rudimentary sphincter muscle, no recognizable dilator muscle and moderate hyperplasia of its pigment epithelium. The ciliary body contained hypoplastic processes and a small coloboma of the pigment epithelium in the anterior por tion of the pars plana on one side. Tiny blood ves sels completely surrounded the lens. The capsular epithelium had migrated posteriorly and the lens cortex was degenerated anteriorly and posteriorly. The peripheral retina was thrown into folds behind the lens and showed numerous tubular or rosette formations and immature cells (Fig. 3). Posteri orly, a cystic structure protruded through a large coloboma of the retinal pigment epithelium, the cho roid and sciera. A single layer of epithelium, pigmented in some areas, lined the cyst. Immature ret ina extended into the anterior portion of the cyst. On one side of the coloboma within the choroid, bundles of smooth muscles were seen (Fig. 4). Adjacent to the coloboma anteriorly was an intrascleral plaque of cartilage (Fig. S). Pathology of the right eye included hypoplasia of the iris, immature anterior chamber angle, per sistent tunica vasculosa lentis, cataract, coloboma of the choroid and sciera and of the retinal and cili ary body pigment epithelium, retinal dysplasia, ret inal nonattachment, intraocular smooth muscle and cartilage, microphthalmos with cyst. Macroscopically, the small left eye measured 9 x 8 x 7 mm with a semi-clear cornea measuring 1 x lS mm. On the posterior lateral aspect of the globe was a 6 x S mm cystic structure (Fig. 6). The horizontally opened eye showed a hypoplastic iris and a non-attached retina. In the posterior polar re gion there was a dehiscence in the sciera and the choroid so that the interior of the eye communi cated with the lumen of the cyst. The inner wall of the cyst was smoothly rippled and shiny but with no evidence of pigment.