title: The optic disc in Leber congenital amaurosis.
abstract: The typical fundus appearance in Leber congenital amaurosis (LCA) in infancy is normal. Later in childhood, clinical heterogeneity develops and a variety of fundal abnormalities may be seen. These commonly include optic atrophy, retinal arteriolar attenuation, and a variety of pigmentary changes. We retrospectively reviewed the optic disc findings of 77 patients with LCA whom we had examined to confirm our clinical impression that the optic discs are frequently normal. Age at examination ranged from infancy to the fourth decade. The optic discs were normal in 53 (69%) of the 77 patients examined; 18 (23%) had varying degrees of optic atrophy; 2 (3%), pseudopapilledema; and 1 (1%), grey discs. The optic discs could not be seen in 3 (4%) patients. We conclude that the optic discs are frequently normal in appearance, even in older patients with LCA.
authors.affiliation: Department of Ophthalmology, Hospital for Sick Children, University of Toronto, Ontario, Canada.
authors.forename: T J
authors.initials: TJ
authors.lastname: Sullivan
authors.forename: S R
authors.initials: SR
authors.lastname: Lambert
authors.forename: J R
authors.initials: JR
authors.lastname: Buncic
authors.forename: M A
authors.initials: MA
authors.lastname: Musarella
mesh_terms: D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000151:congenital* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D009887:Ophthalmoscopy; D015418:Optic Atrophies, Hereditary / Q000473:pathology; D009898:Optic Disk / Q000473:pathology*; D009901:Optic Nerve Diseases / Q000503:physiopathology; D012189:Retrospective Studies