- Uncommon, unilateral or bilateral congenital condition caused by
incomplete closure of the embryonic fissure.
- May present as sporadic cases or autosomal dominantly inherited
- Clinical features:
- Visual field defects
- Relative afferent pupillary defect (RAPD)
- Enlarged, sharply circumscribed, glistening white and deeply
excavated optic disc which usually occurs inferiorly
- May mimic glaucomatous cupping in mild cases
- Can develop serous macular detachment
- Other associated ocular findings may include:
- Coloboma of the lens, ciliary body and choroid
- Microphthalmos with orbital cyst
- Persistent hyaloid artery
- Retinal dysplasia
- May also be part of systemic anomalies, including:
- CHARGE association (coloboma, congenital heart disease, and
choanal atresia, growth or development retardation with multiple
- Trisomy 13.
- Meckel's Syndrome (bilateral ocular disorders associated with
multisystem developmenteal abnormalities).
- Aicardi's Syndrome (bilateral ocular condition associated with
disorder of cranial, choroidal-pigment epithelial and skeletal