A 10-year-old Girl with an 8-Month History of Progressive Photophobia and Hemeralopia

To report a case of nonparaneoplastic autoimmune retinopathy in a 10-year-old female with chronic granulomatous disease (CGD) due to compound heterozygous mutations in NCF1.

The patient was evaluated at Columbia University Irving Medical Center using a comprehensive multimodal imaging protocol that included color fundus photography, short-wave autofluorescence (SW-AF), and spectral-domain optical coherence tomography (SD-OCT). Functional assessments were conducted using Goldmann visual fields and full-field electroretinography (ERG) were completed on-site and followed the ISCEV standard protocols to ensure consistent and reproducible measurements of photoreceptor activity.

A 10-year-old female presented with decreased visual acuity, light sensitivity, and decreased color vision over the past 8 months with no improvement upon refraction. Upon detection of anti-retinal antibodies, treatment was initiated with stabilization and improvement of visual acuity and ERG responses with rituximab treatment. Whole genome sequencing revealed two mutations in NCF1 causing chronic granulomatous disease.

We present a case of autoimmune retinopathy in a CGD patient with compound heterozygous mutations in the NCF1 gene. This novel association may suggest that autoimmunity may be involved the development of the chorioretinal lesions seen in CGD patients. It also supports the use of rituximab in the management of autoimmune retinopathy.