Bilateral active chorioretinal lesions and fundus hemorrhage in a 23-month-old male with CYBB mutation: a case report.

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disease caused by genetic mutations. Clinical manifestations of CGD include recurrent infections, granuloma formation, and noninfectious inflammatory responses in multiple organs, while ocular involvement is uncommon. Chorioretinal lesions in cases of CGD are mostly inactive and tend not to affect vision, while active chorioretinal lesions and fundus hemorrhage are rare. Case Description: A 23-month-old male child with CYBB mutation was admitted to hospital due to fever and decreased visual acuity. He had poor eye contact with others and needed help walking. Physical examination indicated reduced pursuit to light in the left eye and no pursuit to light in the right eye. Syphilis, tuberculosis, cytomegalovirus, herpes simplex virus and mass lesions were excluded. Dilated ophthalmoscopy revealed bilateral chorioretinal lesions and extensive fundus hemorrhage in the right eye. Ultimately, the patient lacked light perception in the right eye and had poor light perception in the left eye. Conclusions: Chorioretinal lesions in CGD are mostly inactive. Although rare, active lesions with fundus hemorrhage can cause visual loss. Recurrent infections may be a trigger for chorioretinal lesions. When patients with CGD have decreased visual acuity, timely fundoscopic evaluation by an ophthalmologist is necessary.