This chapter focuses on select systemic disorders with multiple types of ocular involvement. Systemic disorders with 1 primary ocular abnormality are discussed in other chapters in this volume. Often, the ophthalmologist can help to make the correct systemic diagnosis.
Diseases due to Chromosomal Abnormalities
Abnormalities in chromosomal number (aneuploidy: trisomy or monosomy), structure (duplications, deletions, translocations, inversions, or rings), or type (autosomal or sex chromosome) occur in approximately 1 in 150 live births. Table 28-1 lists select chromosomal abnormalities commonly associated with ocular findings. Also see BCSC Section 2, Fundamentals and Principles of Ophthalmology, Chapter 6.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.