Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.

ABSTRACT:

Objective

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessive disorder resulting from axonal midline crossing defect due to variants in ROBO3.

Methods

We retrospectively evaluated demographics, clinical phenotype, course of spinal deformities, and neuroimaging findings of six Turkish patients with HGPPS. We performed targeted gene testing by next-generation sequencing.

Results

The median age at symptom onset and diagnosis was 1.5 years (0.5-4), and 11 years (2-16), respectively. Oculomotor signs were the most common presenting symptom (n = 4), followed by scoliosis (n = 2). The course of scoliosis was progressive and accompanied by kyphosis, showed intrafamilial variability, and was corrected surgically in three of the patients. Int

SUBMITTER: Gunbey C 

PROVIDER: S-EPMC11330215 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature