一种与视网膜斑点相关的新型RLBP1基因突变。
A NOVEL RLBP1 GENE MUTATION ASSOCIATED WITH RETINAL FLECKS.
作者信息
Issa Mohamad, Sukkarieh Georges, Bruneau Sebastien, Tadayoni Ramin
机构信息
Retina Department, Fondation Adolphe de Rothschild Hospital, Paris, France ; and.
Ophthalmology Department, AP-HP, Hôpital Lariboisière, Université Paris Cité, Paris, France.
出版信息
Retin Cases Brief Rep. 2025 May 1;19(3):376-378. doi: 10.1097/ICB.0000000000001574.
PURPOSE
The aim of this study is to present an unusual fleck retina condition associated with a novel RLBP1 gene mutation.
METHODS/RESULTS: A 25-year-old male patient presented with flecks on fundoscopic examination. Clinical presentation, multimodal imaging, and electroretinography were compatible with the diagnosis of benign familial fleck retina. Genetic analysis detected an RLBP1 gene, a gene commonly associated with more severe retinal diseases.
CONCLUSION
Flecked retina syndromes and other genetic retinal diseases have a complex genotype-phenotype relation and need further research for their pathophysiology to be fully understood.
目的
本研究旨在呈现一种与新型RLBP1基因突变相关的不寻常的视网膜斑点状病变情况。
方法/结果：一名25岁男性患者在眼底检查时发现有斑点。临床表现、多模态成像和视网膜电图均符合良性家族性视网膜斑点症的诊断。基因分析检测到RLBP1基因，该基因通常与更严重的视网膜疾病相关。
结论
视网膜斑点综合征和其他遗传性视网膜疾病具有复杂的基因型-表型关系，其病理生理学需要进一步研究才能完全理解。
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