Ginsberg J, Ballard E T, Buchino J J, Kinkler A K
J Pediatr Ophthalmol Strabismus. 1980 May-Jun;17(3):166-71. doi: 10.3928/0191-3913-19800501-10.
We studied the eyes of two children with proven trisomy 21 and updated the microscopic ocular findings. The ocular malformations, generally of a minor nature, comprise a variety of nonspecific hyperplasia or hamartomata, hypoplasias, tissue defects and heterotopias, and involve virtually every portion of the globe. Ocular and extraocular abnormalities in Down's syndrome do not correlate well embryologically, cytogenetically or in regard to incidence or severity. The type of ocular anomalies usually encountered in trisomy 21 suggests that the globe was affected by the chromosomal anomaly rather late in its development.
我们研究了两名经证实为21三体综合征患儿的眼睛，并更新了眼部微观检查结果。眼部畸形通常程度较轻，包括各种非特异性增生或错构瘤、发育不全、组织缺损和异位，几乎累及眼球的各个部分。唐氏综合征的眼部和眼外异常在胚胎学、细胞遗传学方面，以及发病率或严重程度方面的相关性都不太好。21三体综合征中通常遇到的眼部异常类型表明，眼球在其发育后期受到了染色体异常的影响。
