CASE REPORT OF AN ATYPICAL PRESENTATION OF CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES (CFEOM)

INTRODUCTION: CFEOM is a disorder that includes multiple extra ocular muscle restrictions. It is a rare, non –progressive, congenital condition and refers to at least eight genetically dened strabismus syndromes. Commonly presented clinical signs and symptoms in CFEOM includes- congenital nonprogressive ophthalmoplegia (inability to move the eyes) with or without ptosis (droopy eyelids) affecting part or all of the oculomotor nucleus and nerve (cranial nerve III) and its innervated muscles. Refractive errors are also common. CASE REPORT: The patient was the rst child of non-consanguineous parents. There was no similar history or any history of ocular motility disorders in family in both paternal and maternal side. There is no prior history of use of glasses, occlusion therapy, surgery or trauma. Typically, binocular vision is absent. The child had difculty looking at objects in downgaze, up gaze and laterally. They also observed outward deviation of both eyes which was more for distance. Child had normal weight for age (30 kgs) Head circumference was within normal range (57 cm) There was absence of lid crease in both eyes and chin up head posture was seen for distance. No facial asymmetry was seen. Patient was able to spontaneously alternate xate in the primary position. Patient had hypertropia of 6 prism diopters in left eye when xing with right eye and hypertropia was same in upgaze and downgaze. No evidence of globe retraction on ocular movements. Patient had history of ocular deviation since birth which had not changed over the years. Mutations in the KIF21A gene are the primary cause of CFEOM1. Patients typically have convergent-type nystagmus movements with attempted up gaze (synergistic convergence) and an A pattern with divergence of the eyes in downgaze. There was no associated neurologic abnormalities and systemic disorders. The patient was found to have bilateral lagophthalmos, limitation of elevation and depression (vertical gazes). The patient underwent two surgeries. In the rst surgery, B/L LR RC (14mm from limbus) and B/L SR RC(11mm)was done. DISCUSSION: Congenital brosis of extraocular muscles is a common condition encountered by pediatric ophthalmologists. If not properly diagnosed, it is often confused with other ocular motility disorders. The treatment of CFEOM must focus on specic pattern of decit and include management of head position, ocular alignment in primary position and maximizing outcome by preventing ambylopia. Currently no treatment has been developed to restore full functionality and range of motion of the extraocular muscles. Patients presenting with CFEOM1 usually require large bilateral inferior rectus recessions, often enhanced with bilateral superior oblique tenotomies to allow the eyes to come to vertical midline. Patient might also need multiple strabismus surgeries like with our patient. CFEOM is often associated with potential complications like strabismus, decreased binocular vision, ambylopia and facial palsy.

Modified Y Splitting of Lateral Rectus in Treatment of Abnormal Vertical Eye Movements Combined with Globe Retraction in Duane Retraction Syndrome

Duane retraction syndrome is the most frequently seen restrictive ocular motility disorders. It is clinically presented with limitation of horizontal movement, variable amounts of upshoots or downshoots and globe retraction combined with narrowing of the palpebral aperture on attempted adduction. An 8-year-old patient presented with severe restriction of abduction, reciprocal upshots or downshoots, and globe retraction combined with the palpebral fissure narrowing of on adduction. After the modified Y splitting of LR and recession of both horizontal rectus operation, all cosmetically disfiguring clinical features disappeared. In this case report modified Y splitting procedure and its long-term efficacy is presented.