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.
Shapiro LR, Raab EL, Leopold IH, Hirschhorn K. Hereditary Optic AtrophyAn Autosomal Dominant With Incomplete Penetrance. Arch Ophthalmol. 1969;81(3):359-362. doi:10.1001/archopht.1969.00990010361011