Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy

Autosomal recessive bestrophinopathy (ARB) is a rare inherited retinal dystrophy resulted from mutations in bestrophin-1 (BEST1) which affect functioning of the retinal pigment epithelium (RPE). Descriptions of disease findings in patients with ARB to date have focused only on macular changes. In this case series, we report previously undescribed mid-peripheral retinal changes occurring in 4 patients with ARB.

Case series.

A single-center, retrospective review of medical records from Mayo Clinic patients with ARB was performed. Imaging reviewed include fundus photography, fundus autofluorescence, spectral domain optical coherence tomography (OCT), and fluorescein angiography. Demographic information and disease progression were noted.

4 affected patients from 3 families were identified. All 4 patients were female, and mean age was 12.5 years (range 5-19 years). Diffuse mid-peripheral whitening was consistently noted on fundus photography. Concomitant OCT imaging demonstrated areas of hyperreflectivity in the photoreceptor outer segment layer in areas corresponding to whitening seen on fundus photography. In 1 patient who was followed for 12 years, this finding persisted. Subretinal fluid was also consistently present. Other pathologic imaging findings observed in each patient were in agreement with previous reports of ARB.

This is the first descriptive report of pathologic findings occurred beyond the posterior pole in patients with ARB. These mid-peripheral retinal changes potentially imply that the entirety of the RPE is affected by mutations in BEST1, as also suggested by previous electro-oculogram (EOG) findings. Such implications will be important when developing treatment trials, as past trials have focused only on the posterior pole of the RPE.