The authors studied 35 patients with Leber's congenital
amaurosis and assessed visual acuity, fundus appearance, and systemic findings. The patients were arbitrarily divided into five age groups. Visual acuities were comparable at all ages. Of 22 patients seen for follow-up examinations (mean length of follow-up, 5 years), vision worsened slightly in only 4 patients (3 with
macular coloboma-like lesions and 1 with
keratoconus). Fifty percent of
retinal examinations in patients younger than 1 year of age were normal. With increasing age,
retinal pigmentary changes became evident. All but four patients seen on more than one occasion developed progressive
retinal/retinal pigment epithelium changes.
Cataracts (5 patients) and
keratoconus (3 patients) were present only in older patients (9 to 33 years of age). In Leber's congenital
amaurosis, which probably comprises a number of genetically heterogenous conditions, visual acuity remains stable despite progressive
retinal pigmentary changes. The subgroup of patients with macular
colobomas, however, may develop progressive decrease in vision.
Cataracts and
keratoconus are additional factors contributing to
visual impairment in older patients.