Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
View Article and Find Full Text PDFIntroduction: Keratoconus patients turn to the internet for answers to their disease expectations. Webpages are not filtered or submitted to evaluation before getting published. We aim to evaluate the quality and readability of the online information regarding keratoconus in Portugal and Brazil.
View Article and Find Full Text PDFPurpose: Recently, an 'hyperreflective ganglion cell layer band' (HGB) has been described on spectral-domain optical coherence tomography (SD-OCT) in a subset of patients with retinitis pigmentosa (RP). This study aims to validate and describe the frequency of HGB in a large cohort of Portuguese patients with RP.
Methods: This single-centre, cross-sectional cohort study included consecutive patients with a genetic diagnosis of RP.