A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome

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.

Detalles Bibliográficos
Autores principales: Chiu, Cynthia S., Mantopoulos, Dimosthenis, Lessell, Simmons, Cestari, Dean M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2015
Materias:
Published online: January, 2015
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4327332/
https://www.ncbi.nlm.nih.gov/pubmed/25759667
http://dx.doi.org/10.1159/000375136
Descripción
Sumario: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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