Angioid streaks and optic disc drusen in cherubism: a case report

• Autor(a) principal: Mello,Luiz Guilherme Marchesi
• Data de Publicação: 2020
• Outros Autores: Saraiva,Fábio Petersen, Monteiro,Mario Luiz Ribeiro
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos brasileiros de oftalmologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492020000600535
• topic: Angioid streaks; Optic disk drusen; Bruch membrane; Cherubism

ABSTRACT A 65-year-old female patient was referred to our hospital for evaluation for cataract surgery. Her past medical history included corrective jaw surgeries for facial deformities that developed during infancy and persisted through early adulthood. A complete ophthalmological examination revealed bilateral angioid streaks, drusen in both optic disc areas, and a subretinal neovascular membrane in the left macula. Genetic analysis revealed a mutation in the SH3BP2 gene compatible with the diagnosis of cherubism. Clinical and laboratory evaluation revealed no additional systemic disorders. Cherubism is a rare disease characterized by the development of painless fibro-osseous lesions in the jaws and the maxilla in early childhood. Ophthalmologic findings in this disease are primarily related to orbital bone involvement. This is the first report of AS and optic disc drusen in a patient diagnosed with cherubism. Our findings suggest that angioid streaks and optic disk drusen should be included in the differential diagnosis of ophthalmic disorders identified in patients with this genetic abnormality.