Sign in to use this feature.

Years

Between: -

Subjects

remove_circle_outline

Journals

Article Types

Countries / Regions

Search Results (1)

Search Parameters:
Keywords = Traboulsi syndrome

Order results
Result details
Results per page
Select all
Export citation of selected articles as:
8 pages, 763 KiB  
Case Report
A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype–Phenotype Correlations
by Marisol Ibarra-Ramírez, Luis D. Campos-Acevedo, Aristides Valenzuela-Lopez, Luis Arturo López-Villanueva, Marissa Fernandez-de-Luna and Jibran Mohamed-Noriega
Genes 2024, 15(9), 1120; https://doi.org/10.3390/genes15091120 - 25 Aug 2024
Viewed by 1368
Abstract
Traboulsi syndrome is a rare genetic disorder characterized by facial dysmorphism, lens subluxation, anterior segment anomalies, and spontaneous filtering blebs. The syndrome is due to mutations in the ASPH gene, which plays a crucial role in the development and maintenance of the lens. [...] Read more.
Traboulsi syndrome is a rare genetic disorder characterized by facial dysmorphism, lens subluxation, anterior segment anomalies, and spontaneous filtering blebs. The syndrome is due to mutations in the ASPH gene, which plays a crucial role in the development and maintenance of the lens. This case report describes the clinical and genetic findings in a Mexican male with Traboulsi syndrome, highlighting the identification of a novel ASPH variant. A 21-year-old male presented with trauma to the right eye while playing soccer. He had a history of lens subluxation and dysmorphic facial features. Ophthalmic examination revealed right eye lens subluxation into the anterior chamber (with signs of a previous episode of acute angle closure) and left eye posterior and inferior lens subluxation with sectorial iris atrophy. Genetic analysis identified a pathogenic ASPH variant (NM_004318.3:c.1892G>A, p.Trp631*) and a novel likely pathogenic variant (deletion of exons 20–21), confirming Traboulsi syndrome. This is the first instance of Traboulsi syndrome in the Mexican population. The absence of spontaneous filtering blebs in this patient supports previous reports of the wide phenotypic variability that could be related to the type of mutation. This novel ASPH variant expands the known genetic heterogeneity of Traboulsi syndrome. Full article
(This article belongs to the Special Issue Variations of Rare Genetic Diseases)
Show Figures

Figure 1

Back to TopTop