Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.

Background: In this study, we used targeted next-generation sequencing (NGS) to investigate the genetic basis of congenital hypothyroidism (CH) in a 19-year-old Tunisian man who presented with severe hypothyroidism and goiter.

Case Presentation: The propositus reported the appearance of goiter when he was 18. Importantly, he did not show signs of mental retardation, and his growth was proportionate.

Swept Source Optical Coherence Tomography Assessment of Bursa Premacularis in Healthy Eyes.

Purpose: To describe the reliability and the limits of bursa premacularis (BPM) evaluation using a swept source optical coherence tomography (SS-OCT) device with enface and 16 mm-high definition (HD) longitudinal scans.

Methods: 60 eyes of 60 subjects were enrolled and imaged with SS-OCT system (PLEX Elite 9000, Carl Zeiss Meditec Inc., Dublin, CA, USA).