Abstract
Purpose :
To describe the characteristics of 650 patients from an inherited retinal disease (IRD) registry in a tertiary care hospital in Riyadh, Saudi, Arabia.
Methods :
This preliminary cross sectional analysis of registry data included patient’s age, gender, family history, consanguinity, the clinical diagnosis or syndrome, and genetic testing if available.
Results:
Results :
The median age of the patients at presentation was 23 years (range: few months to 82 years) and the female to male ratio was 1: 1.6. Most patients had only ocular disease (85%). Only 15 % were syndromic. The consanguinity rate was 37.6% (as first-degree cousins), and the most common hereditary pattern (78%) was autosomal recessive. The clinical phenotypes were, in descending frequency, retinitis pigmentosa (rod cone dystrophy) (40%), cone rod dystrophy (14%), Leber congenital amaurosis (11%), Bardet-Biedl syndrome (8%).
The main presenting symptom was poor night vision followed by nystagmus. The symptoms were recognized in the first 12 years of age in the majority (72%) of our participants.
Of the 267 of the 650 patients that had genetic testing, a pathogenic or likely pathogenic mutation was recognized in 80%. The results of the genetic testing were heterogeneous including mutations in genes that included: RP1, ABCA4, RPGR1P1, KCNV2, RPE65, MYO7A, PROM1, ALMS1, CNGA3, BBS4.
Conclusions :
This preliminary analysis of registry data suggested heterogeneity of IRDs at both the phenotypic and genotypic levels. Additional in-depth analysis of the registry data will provide valuable insight into the clinical and genetic profile of IRD’s in Saudi Arabia and phenotype/genotype correlation studies.
This is a 2020 ARVO Annual Meeting abstract.