External ocular manifestation of Wolfram syndrome

ABSTRACT

Wolfram syndrome is a neurodegenerative disorder usually diagnosed in childhood. The ocular manifestation of wolfram syndrome is mainly characterized by bilateral optic atrophy; however, pigmentary retinopathy has been reported in some cases. We present a case with new external ocular manifestation of wolfram syndrome not previously reported in the literature. A 22-year-old retarded man clinically diagnosed as having wolfram syndrome presented with ocular discomfort in his both eyes for a 4-year period, being aggravated recently. On examination, he was emmetrope with best corrected visual acuity of about two meter count finger in each eye. Pupillary response was sluggish but equal in both eyes. Ocular motility was normal and there was no considerable sign of nystagmus; however, there were disturbed blinking reflex, lagophthalmus, and poor bell's phenomenon. Slit lamp examination showed bilateral symmetrical saucer-like depression of the corneal surface adjacent to the limbos that is known to be deled formation. The result of Schemer test was out of the normal limit, in favor of dry eye. So, dry eye due to blinking disturbances in patients with wolfram syndrome as a neurodegenerative disorder may lead to external ocular manifestations, requiring conservative treatments