Further observations of ocular pathology in Down's syndrome

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.