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一名男孩患多发性脉络膜骨瘤——一种罕见的病例报告

Multiple choroidal osteomas in a boy - a rare presentation: a case report.

作者信息

Deuri Arup, Ghosh Deepanjan, Ekka Jayant, Agarwalla Vijaya

机构信息

Department of Ophthalmology, Assam Medical College, Dibrugarh, Assam, India.

出版信息

J Med Case Rep. 2019 Aug 2;13(1):238. doi: 10.1186/s13256-019-2179-4.

Abstract

BACKGROUND

Choroidal osteoma is rare clinical entity of unknown etiology, characterized by formation of mature cancellous bone within the choroid. It typically affects young females, with no racial predilection. Vision loss occurs mainly due to photoreceptor degeneration secondary to decalcification and/or development of choroidal neovascularization especially if located at the subfoveal area.

CASE PRESENTATION

Our case is 9-year-old Indian (Indo-Aryan) boy identified incidentally with clinical features suggestive of choroidal osteoma with marked diminution of vision. Spectral domain optical coherence tomography demonstrated high reflectivity from the choroid and atrophy of the overlying retinal layers and B-scan ultrasound demonstrated multiple highly reflective calcified lesions within the choroid.

CONCLUSION

Although available literature shows that the occurrence of this rare clinical entity is more commonly seen in young females, our case report has shown that it may be seen at a very early age. The treatment options are still not available if significant atrophy of retinal pigment epithelium has already occurred; however, vision loss due to associated choroidal neovascularization may be treated with currently available treatment options. In our case, the vision loss was due to the significant atrophy of the retinal layers. Choroidal neovascularization was not seen and our patient was advised to attend follow-up regularly.

摘要

背景

脉络膜骨瘤是一种病因不明的罕见临床病症,其特征是在脉络膜内形成成熟的松质骨。它通常影响年轻女性,无种族倾向。视力丧失主要是由于脱钙和/或脉络膜新生血管形成继发的光感受器变性,特别是当病变位于黄斑下区域时。

病例介绍

我们的病例是一名9岁的印度(印欧语系)男孩,偶然发现具有提示脉络膜骨瘤的临床特征,视力明显下降。频域光学相干断层扫描显示脉络膜高反射率以及上方视网膜层萎缩,B超扫描显示脉络膜内有多个高反射性钙化病变。

结论

尽管现有文献表明这种罕见临床病症在年轻女性中更常见,但我们的病例报告显示它也可能在非常年幼时出现。如果视网膜色素上皮已经发生明显萎缩,则尚无治疗选择;然而,因相关脉络膜新生血管形成导致的视力丧失可以用目前可用的治疗方法进行治疗。在我们的病例中,视力丧失是由于视网膜层的明显萎缩。未发现脉络膜新生血管形成,我们建议患者定期随访。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1899/6676636/212e0031dbd4/13256_2019_2179_Fig1_HTML.jpg

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