II. Definition
- Congenital ocular tissue defect or gap, most often affecting the iris
III. Findings
- Eyelid margin defect: Treacher Collins Syndrome
- Aniridia (Iris absent)
-
Iris and Retina defect: CHARGE Syndrome (rare Autosomal Dominant condition related to a CHD7 gene mutation)
- Coloboma
- Heart disease
- Choanal Atresia
- Postnatal growth retardation
- Genital hypoplasia
- Ear Abnormality
IV. Management
- Ophthalmology referral on identifying a Coloboma (typically on Newborn Exam)