Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members
E. Nikoskelainen, W. F. Hoyt and K. Nummelin
A neuro-ophthalmological examination was performed on 47 asymptomatic
offspring in the female line and 13 offspring in the male line in families
with Leber's hereditary optic neuropathy. Fourteen (61%) of the 23
asymptomatic males and nine (38%) of the 24 asymptomatic females in the
female line had telangiectatic microangiopathy of the peripapillary
arterioles and capillaries. Increased tortuosity of capillaries,
medium-sized arterioles, and venules were also seen in the fundi of several
asymptomatic family members. The 13 offsprings in the male line did not
have microangiopathy. Nerve fiber abnormalities were not seen in
asymptomatic persons. The photographically verified findings are described,
classified, and discussed. It is suspected that Leber's disease is
primarily a microvascular disorder. The vascular abnormalities detected in
the asymptomatic family members probably indicate increased risk of Leber's
disease developing. During the prospective follow-up of three years, three
asymptomatic boys with microangiopathy have experienced Leber's disease.
