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  • Title: [Typical monochromacy, congenital deafness, and resistance to intracellular action of thyroid hormone (author's transl)].
    Author: Newell FW, Diddie KR.
    Journal: Klin Monbl Augenheilkd; 1977 Nov; 171(5):731-4. PubMed ID: 304503.
    Abstract:
    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.
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