1.
J Neuroophthalmol
; 37(2): 162-165, 2017 06.
Article
in English
| MEDLINE
| ID: mdl-27749773
ABSTRACT
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare and autosomal recessive syndrome. 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.