Horizontal Gaze Palsy and Progressive Scoliosis With ROBO 3 Mutations in Patients From Cape Verde

We describe 2 cases of HGPPS which are the first documented in patients of African ancestry from an isolated population in Cape Verde. They demonstrated typical findings on neuro-ophthalmic examination and brain magnetic resonance imaging. One patient had novel heterozymous mutations of the ROB0 3 gene.
Source: Journal of Neuro-Ophthalmology - Category: Opthalmology Tags: Clinical Observation Source Type: research