Publications by authors named "Maysa Bijawi"
Background: Inherited retinal dystrophies (IRDs) are characterized by extreme genetic and clinical heterogeneity. There are many genes that are known to cause IRD which makes the identification of the underlying genetic causes quite challenging. And in view of the emergence of therapeutic options, it is essential to combine molecular and clinical data to correctly diagnose IRD patients.
View Article and Find Full Text PDFArticle Synopsis
- - The study aimed to identify genetic variants causing inherited retinal dystrophies (IRDs) in two related Jordanian families and analyze the differences in symptoms among affected members.
- - Researchers used whole-exome sequencing and eye exams to find two homozygous deletion variants in the CERKL gene, linked to cone-rod dystrophy (CRD) rather than retinitis pigmentosa (RP).
- - The findings highlight the importance of genetic testing for diagnosing retinopathies and expand knowledge about the genetic causes and effects of CERKL variants.