title: Ophthalmological complications in the sclerosing bone dysplasias.
abstract: The sclerosing bone dysplasias are a group of rare genetic disorders in which overgrowth of the cranio-facial skeleton causes a variety of ophthalmological complications. During the past decade more than 100 South Africans with conditions in this category have been investigated and their ocular manifestations have been appraised. Sclerosteosis was diagnosed in 45 persons. In 70% of the affected adults progressive thickening of the skull led to elevation of intracranial pressure and papilloedema. Proptosis and divergent strabismus was present in 25%, while excessive lacrimation due to bone obstruction of the tear ducts was seen in 28%. Evidence of compression of cranial nerves was present in the majority of patients, but visual loss due to involvement of the second cranial nerve did not occur. Three related patients with the severe autosomal recessive form of oculodento-osseous dysplasia had visual impairment with microphthalmia, microcornea and cataracts, which had been present since birth. The severe autosomal recessive form of osteopetrosis was encountered in two infants, both of whom developed optic atrophy and became blind. The benign autosomal dominant form of osteopetrosis was diagnosed in ten persons; none had ocular involvement. Other sclerosing bone dysplasia patients with ocular involvement included two males with frontometaphyseal dysplasia and gross supra-orbital enlargement and five children with pycnodysostosis and scleral blueing.
mesh_terms: D000328:Adult; D004392:Dwarfism / Q000150:complications / Q000235:genetics; D005124:Eye Abnormalities; D005128:Eye Diseases / Q000209:etiology*; D006801:Humans; D009896:Optic Atrophy / Q000209:etiology; D010022:Osteopetrosis / Q000150:complications / Q000235:genetics; D010026:Osteosclerosis / Q000150:complications* / Q000235:genetics; D010211:Papilledema / Q000209:etiology; D012886:Skull / Q000002:abnormalities; D013285:Strabismus / Q000209:etiology