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Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program
Rizwan Malik1, Rajiv Khandekar1, Trishal Boodhna2
1King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Insights
Primary congenital glaucoma (PCG) is a significant cause of childhood blindness in Saudi Arabia. A national premarital screening program could detect carriers and prevent future cases, potentially eradicating this form of blindness.
Area of Science:
- Ophthalmology
- Genetics
- Public Health
Background:
- Primary congenital glaucoma (PCG) presents a high prevalence in Saudi Arabia, contributing significantly to childhood blindness.
- Affected children often exhibit severe disease, necessitating extensive medical interventions and long-term care, imposing a considerable social and economic burden.
- Current management focuses on early diagnosis and treatment, but this is insufficient to curb the disease's impact.
Purpose of the Study:
- To evaluate the potential of a national premarital screening program for primary congenital glaucoma (PCG) in Saudi Arabia.
- To explore the feasibility of genetic counseling following carrier detection for PCG.
- To assess the cost-effectiveness of implementing a national screening program for PCG.
Main Methods:
- Review of current PCG prevalence and impact in Saudi Arabia.
- Analysis of the genetic basis of PCG, particularly its recessive inheritance patterns.
- Comparative assessment with existing national screening programs (e.g., thalassemia) for implementation strategies.
Main Results:
- PCG is a major cause of preventable childhood blindness in Saudi Arabia, with a substantial disease burden.
- Premarital screening can identify carriers of the causative gene for PCG.
- Genetic counseling can guide reproductive decisions, potentially preventing transmission.
- A national screening program, similar to that for thalassemia, is proposed as a cost-effective strategy.
Conclusions:
- Implementing a national premarital screening program for PCG in Saudi Arabia is a viable strategy.
- Such a program, coupled with genetic counseling, could lead to the eradication of childhood blindness caused by PCG.
- The proposed screening initiative is anticipated to be cost-effective and significantly reduce the societal burden of PCG.
Abstract:
The prevalence of primary congenital glaucoma (PCG) in Saudi Arabia is high and the condition is a cause of childhood blindness in the country. Children often present with severe disease, requiring multiple procedures and a lifetime of medical care. The social and economic burden of the condition is substantial. Presently, the mainstay of management is early diagnosis and treatment of PCG. Premarital screening, especially in recessive diseases, such as PCG can be immensely useful by detecting the presence of a defect in the causative gene, followed by genetic counseling to potential couples that will lead to eradication of the disease in future generations. The introduction of a national screening program similar to the one already functioning for thalassemia, could potentially eliminate childhood blindness from PCG in Saudi Arabia and is likely to prove cost-effective.
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