Abstract
Purpose :
To describe the molecular diagnosis of retinal dystrophies (RD) using multigene panel testing in a Mexican population.
Methods :
Eighty-six patients with clinical diagnosis of a possible vitreoretinal hereditary disease were referred to genetic department for analysis by sequence and deletion/duplication testing of the 293 genes for Inherited Retinal Disorders by massively parallel sequencing.
Results :
Patients had an age range from 0 to 86 years, 46.51% female and 53.48% masculine. Twenty-four patients (27.90%) had a definite molecular diagnosis. Among all study participants 31 pathogenic genetic variants were identified. The associated genes were: OCA2, PROM1, PRPH2, HK1, RDH12, USHA2A, CERKL, RPE65, ABCA4, ALMS, RS1, WFS, RGS9, COL18A1, COL2A1 and COL11A1 . Which diagnosed a variety of RD such as: Usher Syndrome, Retinitis Pigmentosa, Cone and Rod dystrophies,Stickler, among others. The most frequent variant identified was USHA2A c.2299del p. (Glu767Serfs*21). A considerable number of patients (22) where gene carriers. Ten patients with clinical phenotype but with molecular variants of uncertain significance are currently under study to confirm the variant's pathogenicity.
Conclusions :
The diagnostic rate of a commercially available service of massively parallel Sequencing of a set panel of 293 genes was 0.27 in a Mexican population of children and adults with a possible vitreoretinal hereditary disease. Genetic counseling is of great importance in order to provide gene expression and disease prognosis.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.