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PRPF31-related retinitis pigmentosa and asymptomatic carriers
The authors present a study of 21 patients with variants in the PRPF31 gene classified as pathogenic or likely pathogenic. These variants are caused by autosomal dominant retinitis pigmentosa (RP-11). Between January 2020 and November 2021 patients underwent tests of...
Impact of initial management on relapse in Vogt–Koyanagi–Harada syndrome
In this retrospective, multi-centre, observational study, the impact of the initial management of Vogt-Koyanagi-Harada syndrome (VKHS) was assessed by reviewing the records of all patients diagnosed with VKHS between January 2001 and December 2020 in two French tertiary centres, with...
Efficacy of BT as a treatment for cranial nerve palsy in acute and chronic cases
The authors performed a meta-analysis of all patients’ treatment with botulinum toxin (BT) for cranial nerve palsy (CNP) to determine the efficacy of BT in the treatment of CNP due to a variety of causes. The search identified 1129 articles...
Variability between handheld fundus cameras
Handheld fundus cameras offer the potential of enhancing opportunities for telemedicine diagnosis of glaucoma, especially in underserved settings, as they are less bulky, inexpensive and don’t require skilled personnel compared to traditional table-mounted retinal cameras. This study aimed to compare...
Transcriptomic and regulatory gene associations in open angle glaucoma
The authors report a study utilising a publicly available whole exome sequencing dataset of 28 patients with primary open angle glaucoma (POAG) and seven healthy control patients, and a transcriptomic dataset from the trabecular meshwork of four POAG patients and...
