Waardenburg Shah syndrome: A rare case from India

Abstract

Sir, This case has been highlighted to describe the role of an ophthalmologist in timely diagnosis of this rare condition so that optimal rehabilitation for vision and treatment for other associated disorders can be done in the patient. Waardenburg syndrome (WS), is a rare hereditary disorder characterized by varying degree of sensorineural hearing loss, iris pigmentary disorders, and disorders in the structures arising from neural crest. It was first described by the Dutch ophthalmologist Petrus Johannes Waardenburg in 1951. Based on genotypic and phenotypic variations, four different types of WS have been described, types I and II are the most common whereas types III (or Klein-WS) and WS type IV (or Waardenburg–Shah syndrome) are rare.[1 2] We hereby describe a rare case of Waardenburg Shah syndrome (WS type IV) from India. Till now, 49 cases of WS type IV have been reported.[3] A 16-year-old girl came to our outpatient department with the complaints of diminution of vision and difference in the color of both eyes. On ocular examination, visual acuity was 20/100 (OU). She was found to have blue colored iris in the OD and normal colored iris in the OS [Figure 1a]. Her horizontal palpebral aperture was smaller in both the eyes (26 mm) along with dystopia canthorum (lateral displacement of inner canthi) and synophrys (medial eyebrow flare), her innercanthal distance was 36 mm and interpupillary distance was 54 mm. Fundus examination revealed hypopigmented fundus in OD and normal pigmentation in OS [Figure 1b], rest of the examination of anterior and posterior segment was within normal limits in OU. General physical examination revealed slurred speech, hearing loss and broad high nasal root, hypoplasia of alae nasi. Her refraction was +1.25 DS in both eyes; her best-corrected visual acuity was 20/60 in both the eyes. Figure 1 (a) Color photograph showing brilliant blue iris in right eye (b) Fundus photograph depicting hypopigmented fundus in right eye She gave history of frequent vomiting at the time of birth for which she was operated. Her past treatment records revealed Hirschsprung's disease. Hearing tests revealed Sensori neural hearing loss, there was a history of similar disorder in the mother. A provisional diagnosis of WS type IV was made. There are five major and minor diagnostic criteria for WS. The major criteria are congenital sensorineural hearing loss, pigmentary disturbances of the iris and hair, affected first degree relative, dystopia canthorum (lateral displacement of inner canthi), and W index that exceeds 1.95.[2] The minor criteria are congenital vitiligo, synophrys (medial eyebrow flare), broad high nasal root, hypoplasia of alae nasi, and premature graying of hair. According to this criterion, a person must have two major or one minor criteria to be diagnosed as WS type I, WS type II lacks dystopia canthorum, WS III has associated upper limb defects and type IV has associated Hirschsprungs disease along with above features.[3 4 5] The index case presented with different colored iris, dystopia canthorum and synophrys, broad nasal root, sensory neural deafness, a similar disorder in the mother and associated Hirschsprung's disease, her W index was 2.22. On the basis of the above features, a diagnosis of Waardenburg type IV was made.