Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case
K. G. Noble and R. E. Carr
This report is a retrospective study of 33 patients seen over a 16-year
period in whom a diagnosis of Leber's congenital amaurosis was made. The
findings of an autosomal recessive heredity in 33%, connatal blindness
(visual acuity less than 20/200) in 95%m nystagmus in 75%, and a markedly
abnormal electroretinogram in 100% is in agreement with the findings of
previously published large series. The difficulty in making the correct
diagnosis initially was related to the wide variety of fundus findings and
a high association (30%) of central nervous system disease. In the
differential diagnosis of connatal blindness, only Leber's congenital
amaurosis exhibits an absent or markedly diminished response on
electroretinogram. The histopathologic findings in a 6-month-old infant
with this disorder are compared with those of previously published reports.
