Ophthalmologic findings in biotinidase deficiency.
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.
Salbert
B A
BA
Department of Human Genetics, Medical College of Virginia/Virginia Commonwealth University, Richmond 23298.
Astruc
J
J
Wolf
B
B
D000581:Amidohydrolases / Q000172:deficiency*; D043523:Biotinidase; D002648:Child; D002675:Child, Preschool; D005128:Eye Diseases / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn
D000581:Amidohydrolases; D043523:Biotinidase