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

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.