Article
Horizontal Gaze Palsy and Progressive Scoliosis With ROBO 3 Mutations in Patients From Cape Verde.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Jun 2017
Mendes Marques Nadine B P S, Barros Sandra R, Miranda Ana F, Nobre Cardoso João, Parreira Sónia, Fonseca Teresa, Donaire Nelvia M, Campos Nuno
Abstract excerpt
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.
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