Mello Luiz Guilherme Marchesi, Saraiva Fábio Petersen, Monteiro Mario Luiz Ribeiro
Division of Ophthalmology, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Specialized Medicine Department, Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
Arq Bras Oftalmol. 2020 Nov-Dec;83(6):535-537. doi: 10.5935/0004-2749.20200097.
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.
一名65岁女性患者因白内障手术评估被转诊至我院。她的既往病史包括婴儿期出现并持续至成年早期的面部畸形矫正颌骨手术。全面的眼科检查发现双侧血管样条纹、双侧视盘区域的玻璃膜疣以及左眼黄斑区的视网膜下新生血管膜。基因分析显示SH3BP2基因存在突变，符合 cherubism的诊断。临床和实验室评估未发现其他全身性疾病。Cherubism是一种罕见疾病，其特征是儿童早期颌骨和上颌出现无痛性纤维骨性病变。该疾病的眼科表现主要与眼眶骨受累有关。这是首例在诊断为 cherubism的患者中出现血管样条纹和视盘玻璃膜疣的报告。我们的研究结果表明，血管样条纹和视盘玻璃膜疣应纳入患有这种基因异常的患者所发现的眼科疾病的鉴别诊断中。
