The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients

Ophthalmology. 1992 Feb;99(2):241-5. doi: 10.1016/s0161-6420(92)31985-2.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aging / physiology*
  • Cataract / etiology
  • Child
  • Child, Preschool
  • Coloboma / etiology
  • Corneal Diseases / etiology
  • Female
  • Follow-Up Studies
  • Fundus Oculi
  • Humans
  • Infant
  • Macula Lutea / abnormalities
  • Male
  • Optic Atrophies, Hereditary / physiopathology*
  • Retinal Diseases / etiology
  • Visual Acuity