Vitelliform Macular Dystrophy (Best's Disease) Retinal Analysis with Fourier-Domain Optical Coherence Tomography

Abstract

Purpose: : To describe retinal findings in different phases of Best's Disease by Fourier-Domain Optical Coherence Tomography (Fd-OCT).

Methods: : Prospective, observational case series. Patients with clinical diagnosis of Best's Disease confirmed by electroretinogram and electrooculogram were included. All patients underwent a complete ophthalmological examination and fluorescein angiography. Fd-OCT of the macular area (RTvue. Optovue, Inc) was performed in all cases. Central macular thickness (CMT), photoreceptor inner segment and outer segment (IS/OS) interface and retinal pigment epithelium (RPE) were analyzed.

Results: : Eight eyes of 4 patients (3 male, 1 female) were included. Two eyes with a follow up of 1 year were analyzed at different stages of the disease. Age ranged from 27 to 42 years. Best corrected visual acuity (BCVA) ranged from 20/20 to 20/150. OCT findings showed a mean CMT of 101 µm (64-160). The two eyes at the vitelliform stage showed an intraepithelial optically empty cyst. We observed 1 eye in pseudohypopyon stage with hyperreflective mounds within the cyst and sectorial loss of the photoreceptor IS/OS interface. In eyes with the vitelliruptive stage, a disrupted photoreceptor IS/OS interface was found in 5 of 6 eyes. Fd-OCT revealed hyperreflective mounds within the intraepithelial cyst in 2 eyes. The atrophic stage was characterized by RPE irregularity, thinning of inner retinal layers and diffuse loss of photoreceptor IS/OS interface.

Conclusions: : Based on the Fd-OCT findings, our results suggest that the disruption in the photoreceptor IS/OS interface increases as the disease progresses. This seems to be related with the BCVA observed at the different stages of the disease.

Keywords: retinal degenerations: hereditary • imaging/image analysis: clinical • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound)