Knobloch syndrome on multimodal imaging: a case report

Abstract

A 12-year-old boy presented to the hospital because of poor vision for half a year. Examination revealed nystagmus in both eyes. Examination of the anterior segment of both eyes showed no obvious abnormalities, and the vitreous bodies of both eyes were concentrated and agglutinated. Fundus showed clear boundary of optic disc, pale white, leopard striated retina, and characteristic atrophy of pigment epithelium, choroid, and macular atrophy. Knobloch syndrome was confirmed by multimodal imaging and genetic testing.