Retinitis Pigmentosa and Polydactyly in a Patient with a Heterozygous Mutation on the BBS1 Gene

PURPOSE: To report retinitis pigmentosa and a history of polydactyly in a Bardet–Biedl syndrome mutation carrier. OBSERVATIONS: A 25-year-old male presented to the clinic complaining of poor visual acuity since childhood, night-blindness, and progressive peripheral vision loss. The patient also had...

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Detalles Bibliográficos
Autores principales: Guardiola, Gabriel, Ramos, Fabiola, Izquierdo, Natalio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273909/
https://www.ncbi.nlm.nih.gov/pubmed/34262361
http://dx.doi.org/10.2147/IMCRJ.S321961

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273909/
https://www.ncbi.nlm.nih.gov/pubmed/34262361
http://dx.doi.org/10.2147/IMCRJ.S321961

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