title: Ophthalmological findings in 34 patients with Waardenburg syndrome.
abstract: In the Netherlands five families with 34 previously unreported patients with Waardenburg syndrome were traced. Twenty-three patients with the syndrome including dystopia canthorum (Type I) were ophthalmologically examined and three patients with the syndrome without dystopia canthorum (Type II) were also examined. Ten of the 15 patients with pigmentary disorders of the iris also showed a shortage of pigment in the retina. Convergent strabismus occurred in an higher percentage of the examined patients (19%) than in the normal population (4-5%).
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000150:complications / Q000175:diagnosis; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities; D008297:Male; D008875:Middle Aged; D010859:Pigmentation Disorders / Q000150:complications / Q000175:diagnosis; D012168:Retinal Pigments; D013285:Strabismus / Q000150:complications; D014849:Waardenburg Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: D012168:Retinal Pigments