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Project Description

Please note that we are a research service provider, not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.

Hereditary Strabismus

Hereditary strabismus is a condition influenced by a combination of factors including genetic and environmental factors. Protheragen is committed to driving innovation in this field, offering comprehensive services for the development of novel diagnostics and therapies.

Overview of Hereditary Strabismus

The type of strabismus that occurs in families is an inherited condition often affecting 2-4% of children. It is a complex eye disorder that disrupts the proper alignment of the eyes. The condition can result in reduced quality of life, increased social stigma, and most importantly, persistently impaired binocular vision which may culminate in a condition referred to as amblyopia.

Strabismus is a violation of the visual axis, in which both eyes cannot simultaneously focus on the same point.

Fig.1 The eyes of a strabismus cannot focus on the same point at the same time. (Nematillaevna, K. Y., 2022)

Strabismus can also be defined by the direction of alteration of the eye's position which may be inwards (esotropia), outwards (exotropia), or upwards/downwards (hyper/hypotropia), as well as by the constancy of the eye deviation in relation to the gaze direction, which is termed comitance (comitant vs. incomitant strabismus). The etiology of hereditary strabismus is multifaceted combining both genetics and other external factors, with recent findings pointing towards the importance of specific genetic regions and CNVs.

Diagnostics Development for Hereditary Strabismus

Linkage Analysis

Progress on the diagnostic tools directed toward the understanding of genetic strabismus has come a lot closer with the introduction of genetic testing and linkage analysis. Linkage analysis conducted in large families provided evidence for multiple loci associated with strabismus such as those on 7p22.1,4q28.22 and 7q31.2 chromosomes. These studies have nominated candidates for particular genes, which include MGST2 and WNT2 that might be significant to the etiology of the condition.

Genome-Wide Association Studies (GWAS)

GWAS has proven effective in the detection of common variants that predispose to strabismus. Two loci have been found to be important: one at the chromosomal locus 21 in the WRB gene and the other at chromosomal locus 17 in the TSPAN10 gene. These loci have been linked to macular thickness, astigmatism, myopia, and other eye diseases, indicating the possibility of common genetic mechanisms controlling these conditions.

Copy Number Variants (CNVs)

In the context of hereditable strabismus, CNVs are another point of concern as regards developing new diagnostics techniques. Some rare CNVs have been detected which significantly increase the risk for esotropia. One investigation found that certain duplications on chromosomes 4p15.2, 2p11.2, and 10q11.22 are posited to exert a high risk factor for esotropia. These duplications encompass different genes and boundaries of genes, introducing the possibility of disrupted regulation of the genes leading to strabismus.

Therapeutics Development for Hereditary Strabismus

Botulinum Toxin Type A (BTXA) Injection
The injection of BTXA into extraocular muscles has become a new method of treating inherited strabismus. This is done by intentionally rendering the injected muscle nonfunctional for a short period, during which the counterpart muscle can reposition the eye. Compared to surgery, BTXA has the advantages of little or no scarring, minimal anesthetic requirement, and fewer complications.
Gene Therapy Approaches
Gene therapy represents a novel untapped way of treating strabismus of genetic origins. For example, the identification of causative genes in congenital cranial dysinnervation disorders (CCDDs) has given insights into the neural mechanisms of strabismus. These genes KIF21A and TUBB3, impact the development of cranial motor neurons and guidance of their axons resulting in cranial nerve dysgenesis. Future treatment strategies may be directed towards these genetic defects through gene editing or replacing therapies, offering potential therapeutic modalities for hereditary strabismus.

Our Services

Protheragen is leading research in hereditary strabismus providing professional services in diagnostics and development of therapeutics. Our facilities combined with skills in genetic research are critical for the rapid development of novel diagnostics and therapeutics for such a complex disease. We offer the following services:

Diagnostics Development

Karyotype Analysis Service
Omics Analysis Service
Biomarker Development Service
Artificial Intelligence Service
Customized Diagnostics Development Service

Therapeutic Development

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

Disease Models

KIF21A Knockout Mouse Model
TUBB3 Mutation Model
Surgical Esotropia Model
Comitant Optical Strabismus Model (Stationary Prism)
Incomitant Optical Strabismus Model (Rotating Prism)

Preclinical Research

Pharmacodynamics Study Services
Pharmacokinetics Study Services
Drug Safety Evaluation Services
Customized Research Services

Protheragen develops robust in vitro and in vivo models to study the pathogenesis of hereditary strabismus and test potential therapeutic interventions. Our models recapitulate key aspects of the disease, providing a platform for high-throughput screening and validation of new therapeutics. If you are interested in our services, please feel free to contact us.

References

Nematillaevna, Kholmatova Yokutkhon. "CAUSES OF OCCURRENCE AND METHODS OF TREATMENT OF STRABISMUS." World Bulletin of Public Health 17 (2022): 45-47.
Martinez Sanchez, Mayra, and Mary C. Whitman. "Genetics of strabismus." Frontiers in ophthalmology 3 (2023): 1233866.