Eppley Sarah E, Pasricha Neel D, Seitzman Gerami D, Joye Ashlin, Arboleda Alejandro, Qureshi Azam
Department of Ophthalmology, California Pacific Medical Center, San Francisco, CA, USA.
Department of Ophthalmology, University of California, San Francisco, San Francisco, CA, USA.
Cornea Open. 2024 Sep;3(3). doi: 10.1097/coa.0000000000000044. Epub 2024 Sep 16.
Multicentric osteolysis nodulosis and arthropathy (MONA) syndrome is a rare autosomal recessive skeletal dysplasia. Caused by mutations in the matrix metalloproteinase 2 gene () on chromosome 16q12, this syndrome has infrequently been associated with ophthalmic manifestations. Corneal opacities have been reported but not described or documented in detail.
Complete ophthalmologic examination and multimodal anterior segment imaging were used to characterize the corneal findings in a patient with MONA syndrome.
A 19-year-old with MONA syndrome was referred for an eye exam based upon MONA screening recommendations. Visually insignificant peripheral corneal opacities were noted. Anterior segment optical coherence tomography (AS-OCT) demonstrated posterior stromal and endothelial hyperreflectivity. Confocal microscopy demonstrated an acellular peripheral endothelium with a normal central endothelium.
Corneal opacities can occur with MONA syndrome, which is caused by mutations in the gene. In the patient presented here, the corneal opacities are peripheral, deep stromal, with sparing of the anterior stroma and epithelium.
多中心性骨质溶解结节病和关节病（MONA）综合征是一种罕见的常染色体隐性遗传性骨骼发育不良。该综合征由16号染色体长臂12区的基质金属蛋白酶2基因（）突变引起，很少伴有眼部表现。曾有角膜混浊的报道，但未进行详细描述或记录。
采用全面的眼科检查和多模式眼前节成像技术，对一名MONA综合征患者的角膜病变进行特征性分析。
根据MONA筛查建议，一名19岁的MONA综合征患者前来接受眼科检查。检查发现周边角膜混浊，但对视力影响不大。眼前节光学相干断层扫描（AS-OCT）显示后基质层和内皮细胞高反射率。共聚焦显微镜检查显示周边内皮细胞无细胞结构，中央内皮细胞正常。
MONA综合征可伴有角膜混浊，该综合征由基因的突变引起。在本文报道的患者中，角膜混浊位于周边、深层基质层，前基质层和上皮未受累。
