Abstract:

Objective To characterize the retinal imaging of Bardet-Biedl syndrome (BBS). Design Retrospective case series. Participants Eight probands clinically diagnosed as BBS in Beijing Tongren Hospital were included. Methods Data of systemic evaluation were recorded. Sanger sequencing for BBS1-BBS12 genes for genetic diagnosis. Retinal imaging analysis on the probands were performed with fundus photography, spectral-domain optical coherence tomography (SD-OCT), enhanced depth imaging (EDI) OCT and Fundus autofluorescence (FAF) . Main Outcome Measures Retinal imaging charasteristics. Results Mutations in 6 patients were demonstrated in the BBS1, BBS2, BBS4 and BBS7 genes. All of the probands displayed waxy pale of the optic disc, attenuation of the retinal vessels and atrophy of the mid-peripheral retinal pigment epithelium as well as the choriocapillaris. Furthermore macular involvement was exhibited. According to shown as SD-OCT, the abnormalities in macula were observed to differ among patients, implying 3 major degenerative types: the extensive, the concentric and the centrifugal. In EDI-OCT, the subfoveal choriocapillaris were delineated to be thinning and loss in 12 eyes of 6 patients. Conclusion The major degenerative patterns of BBS were shown to be concentric, centrifugal or extensive on multiple reitnal imaging modalities.

Key words: Bardet-Biedl syndrome, spectral-domain optical coherence tomography, enhanced depth imaging