Abstract
Purpose: :
Bardet-Biedl Syndrome (BBS) is an autosomal recessive ciliopathy associated with retinal degeneration, polydactyly, obesity, hypogonadism, renal abnormalities, and cognitive impairment. To date, 12 BBS genes have been identified. Fundus autofluorescence (FAF) imaging is a useful modality for imaging fluorophores, primarily lipofuscin, in the photoreceptor - retinal pigment epithelium complex, and can provide insight into disease pathogenesis and progression. The purpose of this study is to describe FAF findings in patients with BBS.
Methods: :
This retrospective study was approved by the Institutional Review Board. Charts of consecutive patients diagnosed with BBS who underwent FAF imaging were reviewed. FAF images were obtained with a commercially available scanning laser ophthalmoscope system (Heidelberg Retina Angiograph 2).
Results: :
Four patients (8 eyes) were identified with ophthalmic and systemic findings of BBS. Confirmatory genetic testing was performed. The median visual acuity among the eyes was 20/70. The median age was 16 years, and there were 3 males and 1 female. Fundus autofluorescence images for the patients disclosed subtle mottling of the macula (8 of 8 eyes), hyperautofluorescent macular rings similar to those described in retinitis pigmentosa (8 of 8 eyes), and significant progression with time (2 eyes with over 3 years of follow-up)of hypo-autofluorescent mottling outside the vascular arcades with a nasal predominance (8 of 8 eyes).
Conclusions: :
Fundus autofluorescence imaging of patients with BBS was marked by several commonalities: concentric regions of hyper- and hypo-autofluorescence at the macula, a surrounding zone of hyperautofluorescence that extended past the vascular arcades, and a mottling of the mid-peripheral retina, which appeared to have a nasal predominance.
Keywords: imaging/image analysis: clinical • retinal degenerations: hereditary • retinal pigment epithelium