Ocular Manifestations of 13-15 Trisomy

Abstract

<h3>Introduction</h3> Severe congenital ocular anomalies including microphthalmos, anophthalmos, and retinal dysplasia^{13,23,30-35,45}have long been known to have association with other developmental abnormalities. The clinical pattern of what was possibly 13-15 trisomy was first described by Thomas Bartholin in 1657^35,36as a "monster without eyes." There are many cases which may be presumed to have represented this syndrome before 1960²¹when Patau et al established the chromosomal basis for it. Following the work of Lejeune et al in 1959,³⁷the systematic counting of human chromosomes led to the establishment of three specific autosomal trisomy syndromes with clinical-cytogenetic correlation: 13-15 (Denver³⁸system of nomenclature), also referred to as D,³⁹or D₁,⁷or Patau's syndrome; 17-18, or E trisomy, or Edwards syndrome; and 21 or G trisomy (mongolism or Down's syndrome). These trisomy syndromes are recognized clinically by a characteristic array of congenital deformities in