[Typical monochromacy, congenital deafness, and resistance to intracellular action of thyroid hormone (author's transl)].
A 9-year-old boy, the product of a consanguineous marriage, had visual acuity of 6/60, pendular nystagmus, and a bull's-eye type of macular atrophy. A sensorineural deafness was present. The photopic electroretinogram was extinguished; the electro-oculogram was normal. There was associated mental retardation and failure of inhibition of the pituitary gland by high levels of circulating thyroid hormone. Two older siblings although not examined, had similar endocrine abnormalities. Non-involvement of three half-siblings suggested autosomal recessive inheritance.
D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003117:Color Vision Defects / Q000235:genetics*; D003241:Consanguinity; D003638:Deafness / Q000151:congenital*; D005808:Genes, Recessive; D006042:Goiter / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008268:Macular Degeneration / Q000235:genetics; D008297:Male; D009759:Nystagmus, Pathologic / Q000235:genetics; D013963:Thyroid Hormones / Q000097:blood*; D014792:Visual Acuity
D013963:Thyroid Hormones
Typische Monochromasie, angeborene Taubheit und Resistenz gegenüber der intrazellulären Wirkung des Thyreoideahormons.