- Home
- Solutions
- By Diseases
- Congenital Ophthalmic Diseases
- Blepharophimosis Syndrome
Blepharophimosis Syndrome presents a complex challenge for therapeutics development. Protheragen is dedicated to advancing the science and preclinical practice in this area, offering a comprehensive suite of services from genetic diagnostics to cutting-edge therapeutics development.
Blepharophimosis Syndrome (BPES) is a rare genetic disorder characterized by the underdevelopment of facial structures, primarily affecting the eyelids. This condition presents at birth and is hallmarked by a reduced horizontal opening of the eyelids (blepharophimosis), drooping of the upper eyelids (ptosis), increased distance between the inner corners of the eyes (telecanthus), and an upward fold of skin near the inner corner of the eye (epicanthus inversus). The syndrome can be classified into two types: Type I, which is associated with premature ovarian failure in females, and Type II, which presents only with the characteristic facial features.
Fig.1 Schematic diagram of the genomic location and protein structure of forkhead box L2 (FOXL2). (Méjécase, C., et al., 2021)The genetic basis of Blepharophimosis Syndrome is well-established, with the majority of cases linked to mutations in the FOXL2 gene on chromosome 3q23. This gene encodes a transcription factor that plays a crucial role in the development of the eyelids and ovaries. Understanding the genetic mutations associated with Blepharophimosis Syndrome has paved the way for targeted diagnostics and therapeutics development.
Type I Diagnostics
Type I Blepharophimosis Syndrome is discerned by the presence of eyelid malformations combined with premature ovarian insufficiency in females. Genetic screenings via sequencing technologies have enhanced the precision of identifying FOXL2 mutations, allowing for early intervention. An example is the application of Next-Generation Sequencing (NGS) platforms that assist in establishing genotype-phenotype correlations to better predict the course of BPES and guide management therapeutics development.
Type II Diagnostics
Type II Blepharophimosis Syndrome pertains to cases where the syndrome manifests only through the eyelid and facial anomalies without any reproductive impact. Diagnostic procedures for Type II, similar to Type I, make use of detailed family histories, physical examinations, and targeted genetic testing. These steps confirm the presence of FOXL2 mutations, aiding in the early differentiation from other syndromes with overlapping ocular features such as Waardenburg syndrome and congenital ptosis.
Research is progressively exploring the use of gene therapy and other molecular interventions to correct the underlying genetic defects causing Blepharophimosis Syndrome. These involve potential CRISPR-based approaches to edit the FOXL2 gene directly or the development of small-molecule drugs that modulate gene expression pathways affected by FOXL2 mutations. Although still largely experimental, these methods signify a promising frontier in offering more comprehensive therapeutic options beyond traditional surgical approaches.
By collaborating with leading experts in ophthalmology and endocrinology, Protheragen is able to provide specialized and high-quality diagnostics and therapeutic development services for Blepharophimosis Syndrome. By delivering a functional copy of the FOXL2 gene, our goal is to restore normal gene expression and improve the symptoms of the syndrome.
Preclinical research services at Protheragen emphasize the exploration of Blepharophimosis Syndrome (BPES) at the molecular level, aiming to uncover potential therapeutic targets. This comprehensive approach encompasses in vitro investigations using patient-derived cells, alongside in vivo models to rigorously assess the efficacy and safety of innovative compounds. If you are interested in our services, please feel free to contact us.
References
Copyright © Protheragen. All rights reserved.