Abstract

Purpose: To detail the ocular findings in a rare case of bilateral optic disc coloboma with gyrate atrophy.

Methodology: A 68 year old male patient with a history of painless, progressive diminution of vision, more at night time since childhood, underwent detailed ophthalmic evaluation including slit lamp examination, dilated funduscopy, neurological examination and radiological investigations.

Results: The patient was found to have decreased visual acuity in both eyes with myopia, right eye pseudophakia and left eye nuclear sclerosis and bilateral symmetric optic disc coloboma with characteristic chorioretinal atrophy suggestive of gyrate atrophy. Visual field testing revealed tubular fields in both eyes. MRI brain showed diffuse cerebral atrophy.

Conclusions : Co-existence of bilateral optic disc coloboma with gyrate atrophy is a rare phenomenon. Correct diagnosis is extremely important to counsel these patients about visual prognosis and the need for neurological evaluation.