Publications by authors named "X Zanlonghi"
The phenotypic spectrum of gene variants.
Ophthalmic Genet
November 2024
Introduction: Classically, Usher syndrome is characterized by the association of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP) and possible vestibular dysfunction. Pathogenic bi-allelic variants in cause atypical autosomal recessive Usher syndrome, which is associated with SNHL and photoreceptors dysfunction without vestibular signs. To date, only 19 scattered descriptions have been reported.
View Article and Find Full Text PDFInherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. In this retrospective study, we describe sixteen families with early-onset non-syndromic retinal degenerations in which affected probands carried rare bi-allelic variants in CFAP410, a ciliary gene previously associated with recessive Jeune syndrome. We detected twelve variants, eight of which were novel, including c.
View Article and Find Full Text PDFArticle Synopsis
- Congenital microcoria (MCOR) is a rare genetic condition linked to issues like severe nearsightedness and glaucoma, caused by changes in a specific chromosome region.
- Researchers developed a 3D model of chromosome 13q32.1, showing how deletions disrupt important genetic boundaries, leading to altered gene expression that affects iris development.
- The study also identified a connection between SOX21 and the TGFB2 gene, highlighting their roles in eye development and conditions like glaucoma and myopia, which impact a large population.
Article Synopsis
- Congenital stationary night blindness (CSNB) is a genetic eye condition often linked to high myopia, which can lead to serious retinal issues, making understanding myopic progression crucial for potential treatments.
- The study analyzed cases of CSNB associated with specific genetic variants in patients under 18 who had multiple eye measurements, using a mixed-effect model to track changes in myopia over time.
- Results showed that individuals with CSNB are significantly myopic from birth and continue to experience worsening myopia as they grow, suggesting they may benefit from treatments aimed at slowing down myopia progression.
Background: This case report explores the relationship between genetics and phenotypic variability in autosomal dominant vitreoretinochoroidopathy (ADVIRC). The study focuses on a case presenting a novel mutation in the gene and its phenotype in the case's relatives, shedding light on the structural and functional intricacies underlying this rare ophthalmologic disorder.
Case Presentation: A 33-year-old female presented for consultation with a history of bilateral retinal damage accompanied by a complaint of decreased visual acuity, progressive visual field deficit, and night blindness over the past year.