Dr.Anil Jadhav, J15965
A 13yr old male child of a 3rd degree consanguineous marriage was referred for ophthalmic evaluation for poor vision. General features were typical of Cockyane syndrome type I
On Ocular examination BCVA OU of finger counting at 3m. The child had Enophthalmos, Lagophthalmos with Frontalis over action. Bell’s phenomenon was poor (left worse than right) with left eye 3mm hypertropia. A band shaped keropathy with reduced corneal sensations were noted.The pupils showed poor dilatation.
Fundus in BE showed hyperemia of the disc with telangiectatic vessels around the disc.Pigment dispersion (RPE mottling) noted in the mid periphery.The macular reflex was dull.
Lagophthalmos and telangiectatic vessels near the disc are unusual findings in Cockyane syndrome. This case is reported for its rarity. High index of suspicion and a detailed ophthalmic examination is required for proper diagnosis of these unusual findings. Multidisciplinary approach for management with regular follow up is a must.
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