Knobloch Syndrome
An infant presented to the eye clinic with nystagmus. The patient underwent examination. Initial eye examination revealed horizontal nystagmus, a midline occipital scalp lesion, hypoplastic macula in both eyes, and high myopia (greater than -15.0 D in both eyes). Given a family history of nystagmus and “retinal disease”, the patient underwent genetic testing for Knobloch syndrome. Genetic testing revealed a mutation in Collagen 18A1. The patient underwent examination under anesthesia, at which time a prophylactic scleral buckle and laser was placed in the left eye. At last follow-up, five years later the patient had BCVA of 20/400 and the retina attached in both eyes. Clinicians should be aware of the clinical triad of Knobloch syndrome: High myopia, vitreoretinal degeneration with high rates of retinal detachment, and midline scalp lesions.
Presentation Date: 03/11/2021
Issue Date: 04/02/2021
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