coloboma of choroid and retina
Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.
MONDO:0007350
coloboma, ocular, autosomal dominant
is_a
choroidal coloboma
related
retinal coloboma
related
retinochoroidal coloboma
related