PMC4272959_01
Fundus photograph of the proband with Bardet-Biedl syndrome. Fundus examination showed optic disc atrophy with indistinct margins. Marked arteriolar narrowing is observed, and bone spicule pigmentations are present in the mid-periphery of the retina. Macular dystrophy is also observed in both eyes.
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F1
Fundus examination revealed pigmentary changes as typically observed in retinitis pigmentosa with optic disc atrophy (Fig. 1).
PMC4272959_02
Characterization of the family with Bardet-Biedl syndrome. (A) Pedigree showing the segregation of c.103-1G>A and c.728G>A variants. The arrow indicates the proband of the family. (B) Sequencing analysis revealed a compound heterozygous mutation of c.103-1G>A (a consensus splice acceptor site) at the intron 2 and the exon 3 boundary, and c.728G>A (p.Cys243Tyr) at the exon 8 of the BBS7 gene.
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F2
The proband's 28-yr-old brother showed similar clinical findings, but his parents, younger sister, and other blood relatives presented as non-specific (Fig. 2A). Genetic studies conducted on the fourteen known BBS genes (BBS1-BBS14) from all family members by Sanger sequencing revealed that the proband and his brother shared the same compound heterozygous variants of the BBS7 gene (NM_176824.2) (Fig. 2B).