AN ANALYTICAL STUDY AND DESCRIPTION OF COLOBOMA AND CHARGE SYNDROME

Author

• Ana Toledo

Date of Award

2022

Document Type

Dissertation/Thesis

Submission Date

October 2026

Thesis/Dissertation Advisor [Chair]

Mincer, Tracy

Abstract

Coloboma and CHARGE Syndrome are rare congenital conditions that arise in about 1 in 10,000 children. Coloboma is a defect in the eyes. CHARGE Syndrome involves Coloboma, Heart defects, Atresia choanae (also known as choanal atresia), Restricted growth and development, Genital abnormalities, and Ear abnormalities. This thesis aims to spread awareness about the medical and physical complications that come with these conditions and the impacts they have on individuals. This thesis not only meticulously studies and characterizes the mutations and symptoms involved in Coloboma and CHARGE Syndrome, but also provides insight on treatment and possibilities of a cure.

Comments

Thesis (B.S.)--Florida Atlantic University, Harriet L. Wilkes Honors College, 2022

Recommended Citation

Toledo, Ana, "AN ANALYTICAL STUDY AND DESCRIPTION OF COLOBOMA AND CHARGE SYNDROME" (2022). Harriet L Wilkes Honors College Theses 2020 - Present. 184.
https://digitalcommons.fau.edu/etd_honors/184

Extent

46 p.

Identifier

FAUHT00224