Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant

Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant

Purpose: To present the case of two siblings with a genetic diagnosis of Bardet Biedl syndrome (BBS) type 1, yet different clinical profiles and disease manifestations. Observations: Sequencing analysis revealed a p.Met390Arg pathogenic variant in the BBS1 gene of both patients, as well as several a...

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Bibliographic Details
Main Authors: Sofia M. Muns, BS, Lorena A. Montalvo, MD, Jose G. Vargas Del Valle, BS, Meliza Martinez, MD, Armando L. Oliver, MD, Natalio J. Izquierdo, MD
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:American Journal of Ophthalmology Case Reports
Subjects:
Bardet biedl syndrome
Cone-rod dystrophy
Ophthalmic genetics
Retinitis pigmentosa
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993620302292

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http://www.sciencedirect.com/science/article/pii/S2451993620302292

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