Ectopia Lentis

Understanding the underlying causes and mechanisms of lens displacement is critical for advancing therapeutic interventions. Harnessing cutting-edge research and a deep understanding of genetic, molecular, and preclinical aspects, Protheragen offers a comprehensive portfolio of therapeutic solutions tailored to Ectopia Lentis.

Overview of Ectopia Lentis

Ectopia lentis, a condition characterized by the displacement of the eye's crystalline lens from its normal position, presents a significant challenge in ophthalmology. This dislocation can be partial, known as subluxation, or complete, termed luxation. The condition can lead to severe visual impairments, including high refractive error, irregular astigmatism, and decreased best-corrected visual acuity (BCVA). Ectopia lentis is often associated with systemic connective tissue disorders, such as Marfan syndrome, Weill-Marchesani syndrome, and homocystinuria, which underscores the complexity of its management.

Fig.1 Statistics of congenital ectopia lentis (CEL) in different age subgroups. (Jin G.M., et al., 2018)

Diagnostics Development for Ectopia Lentis

• Genetic and Molecular Diagnostics
  A cornerstone of Ectopia Lentis diagnostics lies in identifying the genetic markers and mutations responsible for its occurrence. For instance, Marfan syndrome is linked to mutations in the FBN1 gene, which affect the integrity of connective tissues. Molecular diagnostics leveraging next-generation sequencing can provide significant insights into the hereditary aspects of Ectopia Lentis, facilitating early detection and family counseling.
• Biochemical Diagnostics
  Biochemical assays for conditions like homocystinuria, caused by cystathionine beta-synthase deficiency, add another layer of diagnostic capability. These assays can detect elevated levels of plasma homocysteine, a key marker for differential diagnosis among Ectopia Lentis-associated disorders.

Therapeutics Development for Ectopia Lentis

Our Services

At the cutting edge of ocular therapeutics, Protheragen is pioneering the development of innovative therapeutics for ectopia lentis. We adopt a comprehensive, multidisciplinary strategy that integrates advanced research with extensive preclinical capabilities. Our expertise spans the entire drug discovery and development continuum, starting from the identification of therapeutic targets to the execution of preclinical assessments.

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

Fbn1 Conditional Knockout Mouse Models
Construction Method: Targeted deletion of fibrillin-1 (Fbn1) in the non-pigmented ciliary epithelium (NPCE) using Cre-Lox technology.

Our laboratories conduct rigorous in vitro and in vivo studies to evaluate the efficacy and safety of potential therapeutics. These studies are designed to mimic the human disease state as closely as possible, providing valuable insights into how new therapeutics may perform in actual cases. If you are interested in our services, please feel free to contact us.

References

• Jin, Guang-Ming, et al. "Trends and characteristics of congenital ectopia lentis in China." International journal of ophthalmology 11.9 (2018): 1545.
• Rissardo, Jamir Pitton, and Ana Letícia Fornari Caprara. "Ectopia lentis differential diagnosis." The Pan-American Journal of Ophthalmology 2.1 (2020): 24.