title: [Albers-Schönberg's disease with ocular manifestation].
abstract: Albers-Schönberg's disease is a rare disease (one case in 100,000 inhabitants), asymptomatic in the majority of cases. It belongs to the four clearly individualized forms of human osteopetrosis and has an autosomal dominant transmission. It induces generalized osteosclerosis, and most symptoms result from complications such as fractures following mild injury, compression of cranial nerves, especially the optic nerve, by stenosis of extracranial ostia, but also osteomyelitis of the lower maxilla. The treatment of Albers-Schönberg's disease is disappointing and only symptomatic, although the responsible genetic anomaly was recently identified. We report here the case of a 54-year-old woman, whose diagnosis of the disease has been known since adolescence, who presented with unilateral loss of vision and perimetric deficit due to papilla edema resulting from stenosis of the optic canal and benign intracranial hypertension.
authors.affiliation: Service d'ophtalmologie, hôpital Dupuytren, CHU de Limoges, 2, avenue Martin-Luther-King, 87042 Limoges cedex, France. casse.guillaume@yahoo.fr
authors.forename: G
authors.initials: G
authors.lastname: Casse
authors.forename: L
authors.initials: L
authors.lastname: Magy
authors.forename: J-M
authors.initials: JM
authors.lastname: Vallat
authors.forename: J-P
authors.initials: JP
authors.lastname: Adenis
authors.forename: P-Y
authors.initials: PY
authors.lastname: Robert
mesh_terms: D005128:Eye Diseases / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006801:Humans; D008875:Middle Aged; D010022:Osteopetrosis / Q000150:complications*