# Prevention and early intervention screening for inherited ocular diseases in Saudi Arabia: a national perspective

## TL;DR

This paper discusses the need for national screening programs to prevent and manage inherited eye diseases in Saudi Arabia due to high rates of consanguineous marriages.

## Contribution

The paper proposes a national framework for early intervention and screening of inherited ocular diseases in Saudi Arabia.

## Key findings

- High rates of consanguineous marriages increase the risk of inherited ocular diseases in Saudi Arabia.
- Early genetic screening and counseling can reduce long-term healthcare costs and improve health outcomes.
- Telemedicine and AI tools can enhance accessibility and accuracy in screening programs.

## Abstract

Consanguineous marriages are common, particularly in Saudi Arabia, where approximately half of all marriages are consanguineous. The likelihood of autosomal recessive (AR) genetic abnormalities, especially rare diseases (RDs) that present long-term health issues, is significantly increased by this trend, making Inherited Ocular Diseases (IODs) a public health concern in Saudi Arabia. The common IODs include Primary Congenital Glaucoma (PCG), Retinitis Pigmentosa (RP), and Leber Congenital Amaurosis (LCA). To date, there are no national initiatives for screening programs to detect, prevent, and manage IOD. This review aims to evaluate the public health landscape of IOD in Saudi Arabia, including epidemiology and genetic factors. It highlights the need for a national framework to facilitate screening, prevention, and early intervention. Cost-effectiveness evaluation, early genetic screening, and counseling can drastically lower the long-term medical expenses related to IOD management. Outreach programs can be used to address issues, including cultural acceptance and equitable access to screening services, which are needed. Further carrier screening for at-risk families accompanied by genetic counseling decreases new IOD cases and provides better family planning for impacted populations. These are among the expected results, which will eventually enhance health outcomes and ensure the long-term viability of Saudi Arabia’s healthcare system. In alignment with Vision 2030’s futuristic pipeline for screening, introducing telemedicine and AI-driven predictive tools can enhance accessibility and precision in screening programs.