The 13-15 trisomy syndrome (also called D-trisomy and Patau syndrome1) comprises an entity in which an extra chromosome is associated with the 13-15 or D group of paired chromosomes. Its clinical features consist of multiple congenital abnormalities that commonly include ocular defects. The most frequent systemic abnormalities are harelip, cleft palate, umbilical hernia, polydactyly, cardiac defects, and malformations of the central nervous system. Although born full term, infants with this syndrome rarely live more than a few days or weeks.
Approximately 15 individual case reports have included references to the eye defects.2-12 Microphthalmia, iris colobomas, cataracts, and retinal dysplasia have been especially noted in recent reviews of the subject.11,8,10 It is our purpose to document the pathologic abnormalities in the eyes of three additional patients and to emphasize the presence of intraocular cartilage as being a particularly characteristic feature of the syndrome.
Report of Cases
COGAN DG, KUWABARA T. Ocular Pathology of the 13-15 Trisomy Syndrome. Arch Ophthalmol. 1964;72(2):246-253. doi:10.1001/archopht.1964.00970020246021