DR. JANANI R

Abstract

A 8 year child presented with bilateral hypopigmented iris with premature greying of hair, dystopia canthorum, synorphyrys . A diagnosis of Waardenburg syndrome was made .The fundus examination revealed right eye hypopigmented albinoid features with foveal hypoplasia and normal left fundus. Multispeciality referrals with refractory error correction done and regularly followed up. Genetic counselling given for the parents.

The characteristic pigmentary variation in the iris in this syndrome is paralleled with patterns of fundus pigmentation,which is explained with the theory that embryonic neural crest and neuroectoderm are the ultimate sources of all ocular pigment and the lack of stimulus lead to abnormal pigmentation in one part of the eye affecting corresponding part of the eye in similar fashion.

But in this case,the bilateral hypochromic iris was associated with unilateral fundus hypopigmentation. This unusual discordant pigmentation has not been reported before in literature.