Publications by authors named "L Barbano"

This study aimed to study the inner retina functional and morphological impairment of retinal ganglion cells (RGCs) from specific macular rings and sectors to identify whether selective macular regions were more vulnerable than others within the 20 central degrees in patients with open-angle glaucoma (OAG). In total, 21 OAG patients [mean age 50.19 ± 7.

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Article Synopsis
  • Bardet-Biedl syndrome (BBS) is a rare genetic disorder with symptoms like vision loss, obesity, extra fingers or toes, cognitive issues, and genitourinary defects, caused by mutations in various genes.
  • An 18-year-old boy showing symptoms of BBS underwent genetic testing, but initial methods didn't provide a clear diagnosis until whole-genome sequencing revealed two significant genetic changes affecting the BBS9 protein.
  • The study emphasizes the importance of whole-genome sequencing for diagnosing rare diseases and highlights the need for functional validation to better understand the impact of genetic variants.
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Purpose: To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene.

Methods: A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, fundus autofluorescence (FAF), and SD-OCT.

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We investigated the potential correlation between morphological and functional parameters describing the rarefaction and dysfunction of retinal ganglion cells (RGCs), located in the macula, in multiple sclerosis eyes with a history of optic neuritis (MS-ON). A total of 19 MS-ON eyes from 19 MS patients (mean age: 44.16 ± 4.

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The aim of this study was to assess the morpho-functional involvement of the retinal ganglion cells (RGCs) and of the visual pathways in patients with superficial (ODD-S) or deep (ODD-D) optic disc drusen. This study enrolled 17 patients with ODD (mean age of 59.10 ± 12.

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