A Case Report of Bilateral Primary Optic Atrophy in Children: Osteopetrosis - An Uncommon Cause

Abstract

diagnosis of primary optic atrophy was made based on the clinical findings and with the skeletal system involved, we decided to investigate further with computed tomography (CT) scan of brain and orbit. CT scan (brain with orbit) showed dense sclerosis of the skull and craniofacial bones with loss of corticomedullary differentiation, hypoplasia of the paranasal sinuses, crowding at the orbital apex with narrowing of optic canals (diameter both eyes: <3 mm), and significant narrowing of bilateral internal auditory canals [Figures 5 and 6]. These CT findings were suggestive of osteopetrosis. ABSTRACT A 16-year-old boy presenting to us with profound visual impairment, squinting, with abnormally wide skull, limping gait underwent thorough ophthalmic and systemic examination. He had bilateral optic atrophy and radiological features were suggestive of osteopetrosis, a very rare clinical syndrome characterized by failure of osteoclasts to resorb bone with defective bone modeling and remodeling leading to increased skeletal fragility. The boy had significant narrowing of bilateral optic canals leading to compressive optic neuropathy. In children with abnormal skeletal features with bilateral optic atrophy, rare syndromes such as fibrous dysplasia, craniosynostosis, and osteopetrosis must be considered. Timely awareness about the condition could possibly guide the clinician to reach a proper diagnosis and take appropriate measures related to prevention of optic atrophy. There have been several case reports of early optic nerve decompression resulting in reversal of deterioration of vision. Our case report discusses osteopetrosis and also throws light on efficacy of optic nerve decompression in osteopetrosis with the aid of literature available so far. scan showing dense sclerosis of craniofacial bones on axial and coronal section