TY - JOUR
T1 - Dominant congenital deafness and progressive optic atrophy
T2 - report of a family through four generations
AU - Konigsmark, B. W.
AU - Know, D. L.
AU - Hussels, I. F.
AU - Moses, H.
PY - 1974
Y1 - 1974
N2 - 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.
AB - 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.
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U2 - 10.1017/s1120962300024124
DO - 10.1017/s1120962300024124
M3 - Article
AN - SCOPUS:0016307568
SN - 0001-5660
VL - Vol 23
SP - 377
EP - 379
JO - Acta geneticae medicae et gemellologiae
JF - Acta geneticae medicae et gemellologiae
ER -