Dominant congenital deafness and progressive optic atrophy

report of a family through four generations

B. W. Konigsmark, D. L. Know, I. F. Hussels, Howard Moses

Research output: Contribution to journalArticle

Abstract

Six persons in four generations had congenital severe deafness and progressive mid life visual failure. The 53 year old proband and her 9 year old son, studied in detail, had severe neural hearing loss and optic atrophy, much more severe in the mother. Her vision was 20/80 in each eye while her son's vision was normal. No cause for the hearing or visual loss was present except heredity. The proband's father, seen years ago at the age of 68, was congenitally deaf and had progressive visual loss with optic atrophy. By history, the proband's two maternal aunts and paternal grandmother had its same syndrome. The syndrome, transmitted by dominant mode, is unique and distinct from other familial syndromes of visual and hearing loss, described by other authors.

Original languageEnglish (US)
Pages (from-to)377-379
Number of pages3
JournalActa Geneticae Medicae et Gemellologiae
VolumeVol 23
StatePublished - Jan 1 1974
Externally publishedYes

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Optic Atrophy
Deafness
Nuclear Family
Hearing Loss
Mothers
Heredity
Fathers
Hearing
History

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Dominant congenital deafness and progressive optic atrophy : report of a family through four generations. / Konigsmark, B. W.; Know, D. L.; Hussels, I. F.; Moses, Howard.

In: Acta Geneticae Medicae et Gemellologiae, Vol. Vol 23, 01.01.1974, p. 377-379.

Research output: Contribution to journalArticle

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