Synergistic Convergence in Horizontal Gaze Palsy With Progressive Scoliosis: A Case Report

Area of Science:

• Ophthalmology
• Genetics
• Neurology

Background:

• Synergistic convergence and esotropia can result from central nervous system miswiring.
• Horizontal gaze palsy with progressive scoliosis is a rare condition linked to genetic factors.

Purpose of the Study:

• To document the genetic mutation, secondary muscle changes, and surgical outcomes in a patient with synergistic convergence and esotropia.
• To identify the specific genetic cause of horizontal gaze palsy with progressive scoliosis in this patient.

Main Methods:

• Ophthalmic examination, radiological imaging, and whole exome sequencing were performed.
• Genetic testing identified a homozygous ROBO3 gene mutation (p.Leu888Arg).
• Surgical intervention involved bilateral medial rectus recessions.

Main Results:

• A novel, damaging homozygous ROBO3 mutation was identified.
• Medial rectus muscles were found to be tight but not atrophic.
• The surgery resulted in orthotropia and temporary resolution of synergistic convergence.

Conclusions:

• This case highlights a new ROBO3 mutation associated with synergistic convergence.
• Surgical intervention can be effective for central synergistic convergence, addressing secondary muscle changes.