Abstract

Design: Retrospective case series
Purpose: To study clinico-radiological profile of congenital unilateral hypoplastic extra-ocular muscle (EOM) & discuss the rare presentation, diagnostic challenge and management
Methods: Clinical including oculo-motility findings were documented. Imaging and biopsy findings were noted.
Results: All 3 patients had vertical squint with mean deviation of 45pd. Hypertropia was the presentation in 2 patients and hypotropia in 1. MRI orbit of 3 patients revealed bulky posterior bellies of SR (2 cases) and IR (1case) sparing tendon which were extremely tight on suction testing. No thyroid abnormality was detected. Patients underwent adjustable surgery and got aligned post-operatively. Histopathological examination of muscle revealed normal myofibrils with fibrous tissue without any inflammatory infiltrate or abnormal pathological findings.
Conclusion: Congenital unilateral hyperplastic EOM is an uncommon presentation & can masquerade an acquired aetiology.