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

Authors
  • Muns, Sofia M1
  • Montalvo, Lorena A2
  • Vargas Del Valle, Jose G1
  • Martinez, Meliza3
  • Oliver, Armando L2
  • Izquierdo, Natalio J4
  • 1 University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, PR, 00936-5067, USA. , (Puerto Rico)
  • 2 Department of Ophthalmology, University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, PR, 00936-5067, USA. , (Puerto Rico)
  • 3 Endocrinology, Diabetes and Metabolism Section, Department of Internal Medicine, University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, PR, 00936-5067, USA. , (Puerto Rico)
  • 4 Department of Surgery, University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, PR, 00936-5067, USA. , (Puerto Rico)
Type
Published Article
Journal
American Journal of Ophthalmology Case Reports
Publisher
Elsevier
Publication Date
Dec 01, 2020
Volume
20
Pages
100914–100914
Identifiers
DOI: 10.1016/j.ajoc.2020.100914
PMID: 33015405
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

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. Sequencing analysis revealed a p.Met390Arg pathogenic variant in the BBS1 gene of both patients, as well as several additional variants of uncertain significance Patient 1 was 41 years old, had three primary (cone-rod dystrophy, hypogonadism, and truncal obesity) and three secondary (arterial hypertension, strabismus, and astigmatism) BBS features. He also had insulin resistance, as well as low levels of total testosterone and cortisol. Patient 2 was 43 years old, had two primary (cone-rod dystrophy and truncal obesity), and four secondary (arterial hypertension, diabetes mellitus, strabismus, and astigmatism) BBS features. Both patients had severe maculopathy; however, patient 1 had bone-spicules that extended up to the mid-periphery, in a perivenular pattern, and significant vascular attenuation with "ghost vessel" appearance towards the temporal periphery, a feature that was absent on patient 2. The intrafamilial phenotypic variability among our patients supports the hypothesis that BBS is a disease with genetic, hormonal, and environmental triggers interacting to produce phenotypic variability. Although our report may not establish a definite relationship between environmental and genetic influences, their role should be explored in future studies. © 2020 The Authors.

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