Bardet-Biedl syndrome is a continuum of disorders characterized by systemic and ocular findings. Retinal abnormalities typically present as diffuse photoreceptor degeneration. Here, we report a novel case that suggests a rod-sparing variant of Bardet-Biedl syndrome.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4327332 | PMC |
| http://dx.doi.org/10.1159/000375136 | DOI Listing |
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