Background

To report the case of a patient with two distinct genetic systemic diseases – pseudoxanthoma elasticum (PXE) and Usher syndrome – confirmed by genetic testing.

Materials and Methods

Single Retrospective Case Report

Results

A 36-year-old woman presented with acute central vision loss of the left eye (OS). Fundus exam revealed choroidal neovascularization OS in the setting of angioid streaks secondary to an underlying diagnosis of PXE. Unexpectedly, she also exhibited peripheral bony spicules with significant visual field constriction. Physical exam revealed skin papules on her neck and hearing loss. The presence of angioid streaks and skin findings was compatible with PXE; the etiology of her pigmentary retinopathy and hearing loss was elucidated using genetic testing. The patient was found to be compound heterozygous for pathogenic variants in both the ABCC6 and USH2A genes, confirming the diagnosis of two rare disorders in a single patient.

Conclusions

PXE and Usher syndrome are rare systemic disorders that cause distinctive retinal abnormalities. This report highlights the importance of genetic testing in diagnosing uncommon hereditary retinal disorders and outlines the progression of disease over 6 years.

中文翻译：

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希卡姆病区：单例患者中的假性伪黄瘤和Usher综合征。

背景

通过基因检测证实患有两种不同的遗传系统疾病的患者的病例：弹性假黄瘤（PXE）和Usher综合征。

材料和方法

单一回顾性病例报告

结果

一名36岁的妇女表现出左眼（OS）的急性中央视力减退。眼底检查显示继发于PXE的基础诊断后的脉络膜横纹出现脉络膜新生血管OS。出乎意料的是，她还表现出具有明显视野狭窄的周围骨针。体格检查发现她脖子上的皮肤丘疹和听力下降。血管样条纹的存在和皮肤发现与PXE相容；通过基因测试阐明了她的色素性视网膜病变和听力下降的病因。发现该患者是ABCC6和USH2A基因致病性变异的复合杂合子，证实了在单例患者中诊断出两种罕见疾病的诊断。

结论

PXE和Usher综合征是罕见的全身性疾病，可引起独特的视网膜异常。该报告强调了基因检测在诊断罕见的遗传性视网膜疾病中的重要性，并概述了6年多的疾病进展。