pediatrics
Congenital Eye Abnormalities
Introduction
Eyes can be absent, deformed, or incompletely developed at birth, often in conjunction with other congenital abnormalities and syndromes. (See also Introduction to Congenital Craniofacial and Musculoskeletal Abnormalities and A clinical geneticist should evaluate affected patients even in cases of apparent isolated congenital anomaly. Diagnosis , specific gene tests, or broader gene panel tests should be considered in the evaluation of patients with congenital craniofacial abnormalities. If the results of these tests are nondiagnostic, whole exome sequencing analysis is recommended. Structural birth defects of the eye are treated surgically using various surgical techniques. 