Microphthalmia

Microphthalmia is a congenital anomaly marked by unusually small eyes, frequently resulting in substantial visual impairment. As a distinguished research services company, Protheragen is dedicated to delivering expert microphthalmia diagnostics and innovative therapeutic development solutions.

Overview of Microphthalmia

Microphthalmia is a congenital ocular condition characterized by the underdevelopment of the eye, presenting as an eye that is smaller than the normal population mean. This condition can range from mild microphthalmia, where the eye is merely smaller, to severe cases, where the eye is significantly reduced or even absent (anophthalmia). The impact on vision is variable and depends on the extent of the eye's development and associated ocular abnormalities.

Fig.1 The genetics of optic cup and lens formation. (Harding P., et al., 2019)

Genetic Basis of Microphthalmia

From a scientific perspective, microphthalmia is underpinned by a complex genetic architecture. Over 90 genes have been implicated in the development of this condition, reflecting its genetic heterogeneity. Key genes associated with microphthalmia include SOX2, OTX2, RAX, VSX2, and PAX6, which play crucial roles in the orchestration of eye development. Mutations in these genes can lead to the disrupted formation and differentiation of ocular structures, resulting in the phenotypes observed in microphthalmia.

Table 1. Genes associated with anophthalmia and microphthalmia. (Harding P., et al., 2019)

Diagnostics Development for Microphthalmia

Molecular Diagnostics

The genetic basis of microphthalmia is complex and heterogeneous, with over 90 identified genes associated with the condition. Molecular diagnostics play a crucial role in identifying the genetic underpinnings of microphthalmia. High-throughput next-generation sequencing (NGS) technologies have revolutionized the field, allowing for the identification of pathogenic variants in known genes such as SOX2, OTX2, and PAX6, which are crucial for normal eye development.

Therapeutics Development for Microphthalmia

Our Services

With a cutting-edge team and platform, Protheragen is at the forefront of therapeutic innovation, leveraging extensive expertise in genetic and molecular research to provide clients with specialized microphthalmia diagnostics and therapeutic development services.

Diagnostics Development

• Karyotype Analysis Service
• Omics Analysis Service
• Biomarker Development Service
• Artificial Intelligence Service

Therapeutic Development

• Small Molecule Drug
• Cell Therapy
• Gene Therapy
• Therapeutic Antibody
• Therapeutic Peptide
• Therapeutic Protein

Preclinical Research

• Pharmacodynamics Study Services
• Pharmacokinetics Study Services
• Drug Safety Evaluation Services

Disease Models

• SOX2 Mutant Mouse Models
• OTX2 Mutant Mouse Models
• RAX Mutant Mouse Models
• VSX2 Mutant Mouse Models
• PAX6 Mutant Mouse Models
• rx3 Mutant Zebrafish Models
• pax6 Mutant Zebrafish Models

Leveraging the forefront of stem cell technology, we are dedicated to investigating and addressing microphthalmia. Our focus is on harnessing the capabilities of induced pluripotent stem cells (iPSCs) to not only model the disease but also to pave the way for regenerative therapies aimed at restoring normal visual functions.

Furthermore, we excel in offering an extensive array of preclinical research services, which are crucial for the advancement of potent microphthalmia therapeutics. Our services include critical assessments such as pharmacokinetic and toxicology studies, ensuring the efficacy and safety of these therapeutics. If you are interested in our services, please feel free to contact us.

References

• Harding, Philippa, and Mariya Moosajee. "The molecular basis of human anophthalmia and microphthalmia." Journal of developmental biology 7.3 (2019): 16.
• Plaisancie, Julie, Patrick Calvas, and Nicolas Chassaing. "Genetic advances in microphthalmia." Journal of pediatric genetics 5.04 (2016): 184-188.