Sheriff S M, Hegab S
Ibn Sina Hospital, Kuwait.
Ophthalmic Surg. 1988 May;19(5):353-5.
Chorioretinal and retinal anomalies, among others, have been described in association with true autosomal recessive microcephaly. Accompanying hypertrophy of retinal pigment epithelium has been described in association with Gardner's syndrome. We present the cases of three siblings (two boys and one girl) with true autosomal recessive microcephaly without mental retardation and without associated systemic anomalies who showed hypertrophy of the retinal pigment epithelium similar to that described in Gardner's syndrome. In the boys, these spots were located on a background of fine variations in pigment, with scattered depigmented atrophic areas revealing the sclera in the peripheral and midperipheral fundus. Superadded white spots were located in front of the retinal vessels. The younger boy also had discrete patches of chorioretinal atrophy of 0.5 to 1 disc diameter. The girl, in addition to the hyperpigmented spots, had a diffuse area of chorioretinal atrophy. The anomalies described above suggest that congenital hypertrophy of the retinal pigment epithelium is not unique to Gardner's syndrome.
脉络膜视网膜和视网膜异常等情况已被描述为与真正的常染色体隐性小头畸形相关。视网膜色素上皮的伴随性肥大已被描述为与加德纳综合征相关。我们报告了三个同胞（两个男孩和一个女孩）的病例，他们患有真正的常染色体隐性小头畸形，无智力障碍且无相关的全身异常，其视网膜色素上皮肥大与加德纳综合征中描述的相似。在男孩中，这些斑点位于色素细微变化的背景上，周边和中周边眼底有散在的色素脱失萎缩区域，露出巩膜。额外的白色斑点位于视网膜血管前方。年幼的男孩还有直径为0.5至1个视盘大小的离散脉络膜视网膜萎缩斑。这个女孩除了色素沉着斑外，还有一个弥漫性的脉络膜视网膜萎缩区域。上述异常表明，视网膜色素上皮先天性肥大并非加德纳综合征所特有。
