Solutions

Online Inquiry

* Your Name

* Phone Number

* E-mail Address

* Services Interested

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.

Congenital Ptosis

Congenital ptosis is a complex condition wherein myogenic and neurogenic factors are involved. At Protheragen, we strive to offer the utmost service in the diagnostics and therapeutics of congenital ptosis.

Overview of Congenital Ptosis

Congenital ptosis indicates a droopy upper eyelid which appears at birth or within the first 12 months. From a developmental perspective, neglect otoconia can result in serious issues. Pediatric ocular negligence is one of the most important ophthalmologic concerns. The condition may be unilateral or bilateral and may exist purely or combine with other syndromes that have systemic or ocular abnormalities. The superior muscle is the main one that shows some activity and that is the levator palpebrae. In congenital ptosis, this muscle tends to have some form of glycopeptide fibrosis, fatty replacement, and reduction or disruption of muscle fibers all of which aid in the poor functional capacity.

Schematic diagram of a cross-section of the upper eyelid.

Fig.1 Upper eyelid cross section. (Kratky V., 2020)

Diagnostics Development for Congenital Ptosis

The progress of molecular diagnostics related to congenital ptosis is notable due to the identification of specific genetic mutations and pathways associated with the condition. Major genes that account for congenital ptosis are ZFHX4, COL25A1, and FOXL2, among others. They participate in the processes of muscle and neural differentiation that modifies the structure and functions of the oculomotor cranial nerve nuclei.

ZFHX4 Gene

The ZFHX4 gene region is located on chromosome 8q21.13. It has been shown that mutations of this gene are associated with isolated congenital ptosis which suggests that this gene may play an important role in the development of this disorder. ZFHX4 is a transcription factor with a crucial role in muscle as well as neural development because it is a major modifier of these processes.

COL25A1 Gene

The COL25A1 gene located on chromosome 4q25 is responsible for encoding a collagen that is expressed in the membranes of oculomotor and abducens nerves. There is evidence suggesting that recessive mutations in this gene may contribute to congenital oculopharyngeal ptosis which indicates several primary developmental defects of the oculomotor neurons.

Therapeutics Development for Congenital Ptosis

Gene Therapy Approaches
The focus with regard to gene therapy for congenital ptosis is on modifying the underlying genetic mutations heterozygously that cause the condition. Earlier works involving CRISPR/Cas9 gene editing and viral vector gene delivery systems have proven to be effective. For instance, cellular models where ZFHX4 gene mutations were introduced were successfully repaired with CRISPR/Cas9, which illustrates the simplicity of performing such operations. Moreover, efforts have been made to attempt the restoration of normal gene functioning using functional COL25A1 gene carrying viral vectors in affected individuals.
Drug Therapy Development
The intent of drug therapy for congenital ptosis is to improve muscle strength as well as eyelid lifting. Agents such as phenylephrine which works as an alpha-adrenergic agonist on Müller's muscle, have been employed to achieve temporary eyelid elevation. New compounds are under development that are expected to provide more effective and targeted drugs.

Our Services

Protheragen offers comprehensive services for the development of diagnostics and therapeutics for congenital ptosis. Our expertise in molecular biology, genetics, and pharmacology enables us to provide cutting-edge solutions for the identification, diagnostics, and therapeutics of this condition.

Genetic and Molecular Diagnostics: Utilizing state-of-the-art techniques to identify genetic mutations and molecular markers associated with congenital ptosis.
In Vitro and In Vivo Models: Developing and utilizing cellular and animal models to study the pathogenesis of congenital ptosis and test potential therapeutics.

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

Surgically Induced Eyelid Ptosis Chick Models
Genetic Rhesus Monkey Ptosis Models
Marmoset Ptosis Models
Tree Shrew Ptosis Models
Guinea Pig Ptosis Models

Preclinical Research

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

To support the translation of our diagnostic and therapeutic innovations, Protheragen provides a suite of specialized preclinical research services. Our state-of-the-art facilities and experienced team of researchers are dedicated to evaluating the safety and efficacy of our congenital ptosis solutions in relevant in vitro and in vivo models. If you are interested in our services, please feel free to contact us.

References

Kratky, Vladimir. "Treatment of congenital ptosis." Annals of Eye Science 5 (2020): 37-37.
Wu, Peixuan, et al. "Advances in the genetics of congenital ptosis." Ophthalmic Research 65.2 (2022): 131-139.