Endogenous Endophthalmitis by Candida Albicans Associated with a Primary Immunodeficiency Due to CARD9 Deficiency

J. Guimarães, M. C. Pires, C. Gusmão, A. Torigoe
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Abstract

This report encopasses a case of endogenous endophthalmitis by Candida albicans in an otherwise healthy young adult patient, which led to the diagnosis of a primary immunodeficiency, CARD9 deficiency, associated with familial candidiasis. A 31-year-old female patient with a one-month history of low visual acuity (VA) in the right eye (RE) was referred after no response to treatment of toxoplasmosis and acute retinal necrosis. She presented no comorbidities, but a history of recurrent paronychia, oral candidiasis and tinea capitis since childhood. Her parents were first-degree cousins. Visual acuity was 20/2000 in the RE and 20/20 in the left eye (LE). There was an elevated exudative lesion occupying the retinal posterior pole, associated with fluffy white cotton balls in the adjacent posterior vitreous. Optical coherence tomography (OCT) showed macular lesions with the "rain cloud" sign. Fungal endogenous endophthalmitis was hypothesized. Imaging and laboratory examinations discarded other infections and eliminated involvement of other organs. Diagnostic vitreous puncture was performed in addition to Amphotericin B injection and intravenous Fluconazole. As culture results were negative, a vitreous biopsy was performed, in which Candida albicans was grown, followed by a second Amphotericin B injection. As there was no improvement, pars plana posterior vitrectomy, with placement of silicone oil, was performed. In spite of infection control, VA remained 20/2000. Due to a severe ocular condition with no other invasive sites of infection, associated with superficial recurrent fungal infections, a primary fungal specific immunodeficiency was suspected, resulting in referral to Immunology. An immunogenetic panel was performed, demonstrating heterozygosity for two CARD9 gene mutations, a molecule related to familial candidiasis. Follow-up in Ophthalmology and Immunology was maintained and oral Fluconazole was proposed to be taken for at least 6 months. Three months later, she presented with an oral abscess secondary to Candida, managed by the Otorhinolaryngology team. Fungal endogenous endophthalmitis is an important cause of morbidity and low visual acuity, especially in the population of immunocompromised patients. Early ophthalmological diagnosis should preferably be performed in order to prevent lesions from increasing, affecting noble areas such as the macula, and reaching the vitreous. When the fundus exam presents signs of fungal endophthalmitis in immunocompetent, young and healthy patients, diagnosis of primary immunodeficiencies should be considered.
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由白色念珠菌引起的内源性眼内炎与CARD9缺乏引起的原发性免疫缺陷相关
本报告报道了一例由白色念珠菌引起的内源性眼内炎,该病例发生在一位健康的年轻成人患者身上,导致了与家族性念珠菌病相关的原发性免疫缺陷(CARD9缺陷)的诊断。31岁女性患者,右眼低视力(VA)病史1个月,治疗弓形虫病及急性视网膜坏死无效。她无合并症,但从小有复发性甲沟炎、口腔念珠菌病和头癣病史。她的父母是一级表亲。右眼视力20/2000,左眼视力20/20。在视网膜后极有一个升高的渗出性病变,在相邻的后玻璃体中有绒毛状的白色棉球。光学相干断层扫描(OCT)显示黄斑病变有“雨云”征。推测真菌性内源性眼内炎。影像学和实验室检查排除了其他感染并排除了其他器官的累及。诊断性玻璃体穿刺除两性霉素B注射和氟康唑静脉注射外。由于培养结果为阴性,进行玻璃体活检,其中白色念珠菌生长,然后第二次注射两性霉素B。由于没有改善,我们进行了玻璃体后平面部切除术,并植入了硅油。尽管感染得到控制,VA仍为20/2000。由于严重的眼部疾病,没有其他侵袭性感染,与浅表复发性真菌感染相关,怀疑原发性真菌特异性免疫缺陷,导致转介到免疫学。进行了免疫遗传学小组,显示了两个CARD9基因突变的杂合性,这是一个与家族性念珠菌病相关的分子。维持眼科和免疫学随访,建议口服氟康唑至少6个月。三个月后,她出现口腔脓肿继发念珠菌,由耳鼻喉科小组处理。真菌性内源性眼内炎是发病率和低视力的重要原因,特别是在免疫功能低下的患者群体中。最好进行早期眼科诊断,以防止病变增加,影响黄斑等高贵区域,并到达玻璃体。当眼底检查在免疫能力强的年轻健康患者中出现真菌性眼内炎的征象时,应考虑原发性免疫缺陷的诊断。
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