伴有RDS/PRPH2和ROM-1基因突变的靶心状黄斑病变
BULL'S EYE MACULOPATHY WITH MUTATIONS IN RDS/PRPH2 AND ROM-1.
作者信息
Essilfie Juliet O, Sanfilippo Christian J, Sarraf David
机构信息
Stein Eye Institute, University of California Los Angeles Geffen School of Medicine, Los Angeles, California.
Division of Retina, Stein Eye Institute, University of California Los Angeles Geffen School of Medicine, Los Angeles, California.
出版信息
Retin Cases Brief Rep. 2018;12 Suppl 1:S55-S58. doi: 10.1097/ICB.0000000000000669.
PURPOSE
To report a case of bull's eye maculopathy associated with mutations in RDS/PRPH2 and ROM-1 genes.
METHODS
We present a case report of a patient with a characteristic maculopathy and describe the multimodal retinal imaging findings including spectral domain optical coherence tomography and fundus autofluorescence and full-field electrophysiology. The results of genetic testing are also reported.
RESULTS
A 60-year-old woman presented with decreased vision and a remarkable bull's eye maculopathy with retinal examination. Fundus autofluorescence illustrated a striking pattern of speckled hyperautofluorescence and hypoautofluorescence that highlighted the bull's eye maculopathy in each eye and guided genetic testing, which confirmed a mutation of the RDS/PRPH2 gene and a novel mutation of the ROM-1 gene.
CONCLUSION
Multimodal imaging including fundus autofluorescence may guide genetic testing in patients with a characteristic maculopathy. RDS/PRPH2 genetic mutation can be associated with a bull's eye maculopathy with a signature fundus autofluorescence presentation.
目的
报告一例与RDS/PRPH2和ROM-1基因突变相关的靶心状黄斑病变病例。
方法
我们报告一例具有特征性黄斑病变患者的病例报告，并描述多模态视网膜成像结果，包括光谱域光学相干断层扫描、眼底自发荧光和全视野电生理检查。还报告了基因检测结果。
结果
一名60岁女性因视力下降就诊，视网膜检查发现显著的靶心状黄斑病变。眼底自发荧光显示出斑点状高自发荧光和低自发荧光的显著模式，突出了每只眼中的靶心状黄斑病变，并指导了基因检测，该检测证实了RDS/PRPH2基因的突变和ROM-1基因的新突变。
结论
包括眼底自发荧光在内的多模态成像可指导具有特征性黄斑病变患者的基因检测。RDS/PRPH2基因突变可与具有特征性眼底自发荧光表现的靶心状黄斑病变相关。
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