Peripapillary Sparing in Autosomal Recessive Bestrophinopathy

Abstract

Purpose: To demonstrate that peripapillary sparing on autofluorescence images is a characteristic feature of autosomal recessive bestrophinopathy (ARB).

Design: Retrospective, cross-sectional case series and review of previous published cases.

Participants: Twelve patients with ARB.

Methods: Ophthalmic assessment included best-corrected visual acuity testing, electrophysiologic examinations, and multimodal retinal imaging. Retinal imaging included OCT, blue-light autofluorescence imaging, fundus photography, and widefield pseudocolor and autofluorescence fundus imaging.

Main outcome measures: Presence of peripapillary sparing on fundus autofluorescence images.

Results: Relatively normal-appearing peripapillary autofluorescence was identified in all patients, independent of the disease stage or presence of widespread changes on autofluorescence widefield images. OCT images of the peripapillary region revealed mild structural abnormalities, including a thinned outer nuclear layer and intraretinal or subretinal fluid. A review of previously published cases confirmed peripapillary sparing as consistent feature on fundus autofluorescence images. Genetic analysis revealed 10 previously reported mutations, 1 novel missense (c.83T>A; p.Ile28Asn) and 2 novel truncating (c.658C>T; p.Gln220* and c.1370C>G; p.Ser457*) variants in BEST1.

Conclusions: In ARB patients, peripapillary sparing is a consistent feature on fundus autofluorescence images, whereas the same region is less preserved on OCT images.