Purpose: Primary congenital glaucoma (PCG) is a rare glaucoma type that develops in early infantile period and contributes to an elevated pressure on ocular cavity. Variants in CYP1B1 gene are the most encountered in PCG cases. The prevalence of PCG is relatively high among Arabs, however its genetic epidemiology remains understudied. This study aims to systematically identify all reported PCG disease-causing variants in the Arab population and investigate their potential genotype-phenotype correlations.
Methods: We searched four different databases (PubMed, ScienceDirect, Google Scholar, and Scopus) from the time of inception until July 2020. Broad search terms were used to capture all possible information about the genetic epidemiology of PCG among Arabs.
Results: We identified a total of 77 disease-causing variants in 361 patients and 88 families; of these, 33 were unique to Arabs. Sixty-nine variants were identified in the CYP1B1 gene, five variants were in the MYOC gene and single variants were reported in NTF4, FOXC1, and WDR36 genes. The most common reported variant was the c.182 G > A in the CYP1B1 gene. All identified variants were from ten Arab Countries (Saudi Arabia, Kuwait, Oman, Egypt, Morocco, Lebanon, Tunisia, Iraq, Algeria, and Mauritania). We identified 44 shared variants with other ethnicities demonstrated a distinctive genotype-phenotype correlation. Consanguinity was observed in the majority of Arab PCG patients, ranging from 45% to 100%.
Conclusion: PCG causing variants were identified in 10 Arab countries, which were mostly detected in the CYB1P1 gene. Arab patients with PCG seem to have distinctive genotype-phenotype correlations.
Keywords: Arab countries; consanguinity; epidemiology; primary congenital glaucoma; variants.