Kellner Simone, Weinitz Silke, Farmand Ghazaleh, Stöhr Heidi, Weber Bernhard H F, Kellner Ulrich
Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik-und Therapiezentrum Siegburg GmbH, 53721 Siegburg, Germany.
RetinaScience, 53192 Bonn, Germany.
J Clin Med. 2025 Jul 10;14(14):4893. doi: 10.3390/jcm14144893.
: The clinical presentation of inherited retinal dystrophies associated with pathogenic variants in is highly variable. Here we present bilateral sector macular dystrophy as a novel clinical phenotype. : Ophthalmologic examination, detailed retinal imaging with optical coherence tomography (OCT), OCT-angiography, fundus and near-infrared autofluorescence and molecular genetic testing were performed on a 30-year-old female. : The patient reported the onset of subjective visual disturbances 4.5 months prior to our first examination. Clinical examination and retinal imaging revealed bilateral sharply demarcated paracentral lesions in the temporal lower macula and otherwise normal retinal findings. Patient history revealed no medication or other possible causes for these unusual retinal lesions. Molecular genetic testing revealed a heterozygous c.623G>A variation (p.(Gly208Asp)) in the gene. : Bilateral sectoral macular dystrophy has not been reported previously in any inherited retinal dystrophy. This feature adds to the wide spectrum of -associated clinical presentations.
与[基因名称]中致病变异相关的遗传性视网膜营养不良的临床表现高度可变。在此，我们报告双侧扇形黄斑营养不良作为一种新的临床表型。对一名30岁女性进行了眼科检查、光学相干断层扫描（OCT）、OCT血管造影、眼底和近红外自发荧光的详细视网膜成像以及分子基因检测。患者报告在我们首次检查前4.5个月出现主观视觉障碍。临床检查和视网膜成像显示双侧颞下黄斑中央旁病变界限清晰，视网膜其他部位表现正常。患者病史显示无药物或其他可能导致这些异常视网膜病变的原因。分子基因检测显示[基因名称]基因存在杂合的c.623G>A变异（p.(Gly208Asp)）。双侧扇形黄斑营养不良此前在任何遗传性视网膜营养不良中均未被报道。这一特征增加了与[基因名称]相关的临床表现谱。
