title: Leber's congenital amaurosis.
abstract: Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age of 6 months, a variable fundus aspect and an absent or extremely pathological ERG. The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (Senior-Loken syndrome), nephronophtisis, cone-shaped epiphyses of the hand and cerebellar ataxia (Saldino-Mainzer syndrome), vermis hypoplasia, oculomotor anomalies and respiratory problems in the neonatal period (Joubert syndrome) or cardiomyopathy. It should be differentiated from other forms or chorioretinal dystrophies (juvenile retinitis pigmentosa or congenital stationary night blindness), cortical blindness or maturation delay and metabolic disorders. Children with possible congenital Leber amaurosis should not only have a thorough ophthalmological examination, but should also be seen by a paediatrician experienced in metabolic disorders.
authors.affiliation: Department of Ophthalmology, University Hospital, Ghent, Belgium.
authors.forename: J J
authors.initials: JJ
authors.lastname: De Laey
mesh_terms: D000015:Abnormalities, Multiple; D001766:Blindness / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D003937:Diagnosis, Differential; D004596:Electroretinography; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications; D009759:Nystagmus, Pathologic; D012025:Reflex, Pupillary; D013577:Syndrome