Ocular Genetic Diagnostic Market Report 2025

The ocular genetic diagnostics market size has grown strongly in recent years. It will grow from $0.98 billion in 2024 to $1.07 billion in 2025 at a compound annual growth rate (CAGR) of 9.7%. The growth during the historic period is attributed to the early adoption of molecular diagnostic techniques, rising awareness of inherited eye disorders, expansion of academic and clinical research, increasing incidence of retinal dystrophies, and growing demand for pediatric genetic testing.

The ocular genetic diagnostics market size is expected to see strong growth in the next few years. It will grow to $1.53 billion in 2029 at a compound annual growth rate (CAGR) of 9.4%. The growth during the forecast period is driven by rising demand for personalized ophthalmic care, expansion of direct-to-consumer genetic testing, increasing investments in gene therapy trials, growth of precision medicine initiatives, and the integration of artificial intelligence in genetic data interpretation. Key trends in the forecast period include greater use of artificial intelligence-powered genetic analysis, expansion of at-home genetic testing kits, rising demand for prenatal ocular genetic screening, development of gene-specific diagnostic platforms, and advancements in cloud-based genetic data storage.

The growing prevalence of eye diseases is contributing to the expansion of the ocular genetic diagnostic market. Eye diseases include a range of medical conditions that affect the eye’s structure or function and can lead to vision loss or blindness if not properly treated. This increase in eye-related conditions is primarily driven by extended use of digital screens and electronic devices, which results in eye strain, dry eye, and other visual impairments. Ocular genetic diagnostics support the management of these conditions by identifying inherited genetic components early, providing a better understanding of disease origins, and improving diagnostic accuracy and patient care strategies. For example, in February 2025, a survey conducted by the American Foundation for the Blind, a United States-based organization supporting individuals with vision impairment, found that 51.9 million American adults aged 18 and older reported some degree of vision difficulty. Among them, 3.7 million have significant trouble seeing even while wearing glasses, and 307,000 are completely blind. The remaining 47.9 million experience mild visual difficulties despite using corrective lenses. This rise in vision problems is contributing to the growing demand for genetic diagnostics in ocular healthcare.

Companies involved in this market are prioritizing the development of specialized clinical services to improve early detection, diagnosis, and personalized treatment of hereditary eye conditions. Clinical services involve the professional evaluation, diagnosis, and management of patient health concerns. For instance, in October 2024, the Singapore National Eye Centre, a public-sector specialty eye hospital in Singapore, introduced the Ocular Genetics Service. This dedicated clinical program provides focused care for patients with inherited eye conditions, integrating genetic testing, counseling, and individualized treatment planning in one setting. The initiative allows for more timely and accurate identification of genetic eye disorders while offering care that aligns with the patient’s unique genetic profile. This type of clinical service reflects a broader movement toward precision medicine and integrated, patient-centered care in the ocular genetics field.

In October 2024, Ocuphire Pharma Inc., a biopharmaceutical company based in the United States that specializes in ophthalmic treatments, acquired Opus Genetics Inc. for an undisclosed amount. This acquisition enables Ocuphire to broaden its research and development pipeline by incorporating gene therapy programs designed for rare genetic eye conditions. By combining its existing advanced-stage drug portfolio with early-stage genetic therapies, the company aims to address unmet needs in retinal degenerative diseases. Opus Genetics Inc., also based in the United States, focuses on the development of therapies for inherited retinal diseases associated with genes that cause progressive vision loss.

Major players in the ocular genetic diagnostic market are Thermo Fisher Scientific Inc., Quest Diagnostics Inc., Illumina Inc., The Children's Hospital of Philadelphia, University of Iowa Hospitals and Clinics, PerkinElmer Inc., Natera Inc., Myriad Genetics Inc., Fulgent Genetics Inc., ARUP Laboratories Inc., Invitae Corporation, Spark Therapeutics Inc., GeneDx LLC, Blueprint Genetics Oy, Medgenome Labs Inc., Centogene NV, PreventionGenetics LLC, Molecular Vision Laboratory LLC, Casey Eye Institute, and Moorfields Eye Hospital & UCL Institute of Ophthalmology.

North America was the largest region in the ocular genetic diagnostics market in 2024. Asia-Pacific is expected to be the fastest-growing region in the forecast period. The regions covered in ocular genetic diagnostic report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East and Africa. The countries covered in the ocular genetic diagnostic market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain.

Note that the outlook for this market is being affected by rapid changes in trade relations and tariffs globally. The report will be updated prior to delivery to reflect the latest status, including revised forecasts and quantified impact analysis. The report’s Recommendations and Conclusions sections will be updated to give strategies for entities dealing with the fast-moving international environment.

The sudden escalation of U.S. tariffs and the consequent trade frictions in spring 2025 are severely impacting the healthcare sector, particularly in the supply of critical medical devices, diagnostic equipment, and pharmaceuticals. Hospitals and healthcare providers are facing higher costs for imported surgical instruments, imaging equipment, and consumables such as syringes and catheters, many of which have limited domestic alternatives. These increased costs are straining healthcare budgets, leading some providers to delay equipment upgrades or pass on expenses to patients. Additionally, tariffs on raw materials and components are disrupting the production of essential drugs and devices, causing supply chain bottlenecks. In response, the industry is diversifying sourcing strategies, boosting local manufacturing where possible, and advocating for tariff exemptions on life-saving medical products.

Ocular genetic diagnostics refers to the specialized field focused on detecting and analyzing inherited genetic variations linked to eye health and vision. It involves the systematic examination of genetic factors that contribute to ocular conditions, with the goal of identifying the hereditary basis of these disorders.

The primary test types in ocular genetic diagnostics include single gene testing, panel testing, whole exome sequencing, and whole genome sequencing. Single gene testing, also called singleton testing, evaluates one specific gene at a time, typically when a mutation is strongly suspected based on clinical features or family history. Technology types include sequencing technology, polymerase chain reaction (PCR), microarray technology, and next-generation sequencing (NGS). Applications include retinal disorders, cataract diagnosis, inherited ocular diseases, and age-related macular degeneration, with end users such as hospitals, diagnostic laboratories, academic institutions, research institutes, and others.

The ocular genetic diagnostic market research report is one of a series of new reports that provides ocular genetic diagnostic market statistics, including ocular genetic diagnostic industry global market size, regional shares, competitors with a ocular genetic diagnostic market share, detailed ocular genetic diagnostic market segments, market trends and opportunities, and any further data you may need to thrive in the ocular genetic diagnostic industry. The ocular genetic diagnostic market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenario of the industry.

The ocular genetic diagnostic market consists of revenues earned by entities by providing services such as molecular diagnostic services, genetic counseling services, risk assessment services, and customized genetic report services. The market value includes the value of related goods sold by the service provider or included within the service offering. The ocular genetic diagnostic market also includes sales of genetic testing kits, laboratory reagents, and consumables. Values in this market are ‘factory gate’ values, that is the value of goods sold by the manufacturers or creators of the goods, whether to other entities (including downstream manufacturers, wholesalers, distributors and retailers) or directly to end customers. The value of goods in this market includes related services sold by the creators of the goods.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD unless otherwise specified).

The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.

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