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A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome

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4327332.pdf (685.24 KB)

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2015

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10.1159/000375136

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S. Karger AG
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Chiu, Cynthia S., Dimosthenis Mantopoulos, Simmons Lessell, and Dean M. Cestari. 2015. “A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome.” Case Reports in Ophthalmology 6 (1): 30-33. doi:10.1159/000375136. http://dx.doi.org/10.1159/000375136.

Abstract

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/pdf/

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Bardet-Biedl syndrome, Rod-sparing, Polydactyly, Retinitis Pigmentosa, Electroretinography

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http://nrs.harvard.edu/urn-3:HUL.InstRepos:14351233

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