TY - JOUR
T1 - Hereditary Optic Atrophy
T2 - An Autosomal Dominant with Incomplete Penetrance
AU - Shapiro, Lawrence R.
AU - Raab, Edward L.
AU - Leopold, Irving H.
AU - Hirschhorn, Kurt
PY - 1969/3
Y1 - 1969/3
N2 - A 5-year-old child was examined because of decreased vision with as yet no detectable objective explanation. The mother and grandmother were known to have decreased vision and pallor of the optic nerve heads. Other presumed affected members of the maternal family were identified through five generations. Evaluation of the pedigree indicated an autosomal dominant heredity with incomplete penetrance, which is confirmed by segregation analysis. This mode of inheritance has not yet been described with regard to optic atrophy.
AB - A 5-year-old child was examined because of decreased vision with as yet no detectable objective explanation. The mother and grandmother were known to have decreased vision and pallor of the optic nerve heads. Other presumed affected members of the maternal family were identified through five generations. Evaluation of the pedigree indicated an autosomal dominant heredity with incomplete penetrance, which is confirmed by segregation analysis. This mode of inheritance has not yet been described with regard to optic atrophy.
UR - http://www.scopus.com/inward/record.url?scp=0014481274&partnerID=8YFLogxK
U2 - 10.1001/archopht.1969.00990010361011
DO - 10.1001/archopht.1969.00990010361011
M3 - Article
C2 - 5774293
AN - SCOPUS:0014481274
SN - 0003-9950
VL - 81
SP - 359
EP - 362
JO - Archives of Ophthalmology
JF - Archives of Ophthalmology
IS - 3
ER -