Coloboma, CHARGE Syndrome

  • Definition
  1. Congenital ocular tissue defect or gap, most often affecting the iris
  • Findings
  1. Eyelid margin defect: Treacher Collins Syndrome
  2. Aniridia (Iris absent)
    1. Poor Visual Acuity
    2. Nystagmus
  3. Iris and Retina defect: CHARGE Syndrome (rare Autosomal Dominant condition related to a CHD7 gene mutation)
    1. Coloboma
    2. Heart disease
    3. Choanal Atresia
    4. Postnatal growth retardation
    5. Genital hypoplasia
    6. Ear Abnormality
  • Management
  1. Ophthalmology referral on identifying a Coloboma (typically on Newborn Exam)