title: Ophthalmologic findings in biotinidase deficiency.
abstract: Biotinidase deficiency is an autosomal recessively inherited metabolic disorder characterized by neurological and cutaneous manifestations and metabolic abnormalities. We studied 78 symptomatic children and found that 51% had ophthalmologic abnormalities. These include infections (30%), optic neuropathies and visual disturbances (13%), motility disturbances (13%), retinal pigment changes (4%) and pupillary findings (1%). The most commonly reported findings are optic atrophy and keratoconjunctivities. Although the disorder can be effectively treated with biotin therapy, untreated children are at risk of developing permanent neuro-ophthalmic damage.
authors.affiliation: Department of Human Genetics, Medical College of Virginia/Virginia Commonwealth University, Richmond 23298.
authors.forename: B A
authors.initials: BA
authors.lastname: Salbert
authors.forename: J
authors.initials: J
authors.lastname: Astruc
authors.forename: B
authors.initials: B
authors.lastname: Wolf
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency*; D043523:Biotinidase; D002648:Child; D002675:Child, Preschool; D005128:Eye Diseases / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn
chemical_list: D000581:Amidohydrolases; D043523:Biotinidase