Leber's Congenital Amaurosis (LCA)

Leber's congenital amaurosis (LCA) is an uncommon hereditary disorder that results in blindness and impaired vision. It disrupts the normal development of the retinas in infants. For advancing and accelerating Leber's Congenital Amaurosis research, specialized drug and therapy development services are essential. Our company is fully equipped to meet your needs in Leber's Congenital Amaurosis therapy development.

Introduction to Leber's Congenital Amaurosis

Leber's Congenital Amaurosis (LCA) is a rare, inherited retinal dystrophy that typically manifests in severe visual impairment or blindness at birth or within the first few months of life. LCA accounts for approximately 5% of all retinal dystrophies and is a significant cause of childhood blindness, representing around 20% of cases in schools for the blind. The prevalence of LCA is estimated to be between 1 in 33,000 to 1 in 81,000 births.

Pathogenesis of Leber's Congenital Amaurosis

The pathogenesis involves aplasia, dysplasia, and degeneration of photoreceptors, with specific genetic defects leading to varying mechanisms of photoreceptor damage. So far, 23 causative genotypes have been identified, accounting for more than half of all cases, while some causes remain unknown [13]. The most commonly implicated genes are CEP290 (15%), GUCY2D (12%), CRB1 (10%), and RPE65 (8%).

Fig. 1 Spatial representation of expression of LCA/EOSRD genes, grouped according to their proposed function. (Kumaran, N., et al., 2017)

Molecular Diagnosis of Leber's Congenital Amaurosis

Multigene Panel Testing: Utilizing next-generation sequencing (NGS), this method screens for all known LCA-related genes, including CEP290, GUCY2D, and RPE65. This approach allows for a comprehensive assessment of potential genetic mutations.

Whole Genome Sequencing (WGS): Employed when multigene panel results are inconclusive, WGS analyzes the entire genome to identify rare or novel mutations that might be responsible for LCA.

Gene Therapy Development of Leber's Congenital Amaurosis

Disclaimer: Protheragen focuses on providing preclinical research service. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

Our company embraces a partnership-driven approach. We work closely with clients to develop customized, innovative Leber's Congenital Amaurosis therapy strategies and provide strong support throughout the process.

Platforms of Leber's Congenital Amaurosis Therapy Development

Animal Models of Leber's Congenital Amaurosis

We possess established expertise in developing and using animal models that accurately replicate the disease characteristics and therapeutic responses. These models allow us to assess the safety and efficacy of potential therapies.

Non-Genetically Engineering Models
We offer a variety of models tailored to specific research needs related to Leber's Congenital Amaurosis. These models enable researchers to simulate and investigate the complex biological processes involved in Leber's Congenital Amaurosis.
Optional Models	NMDA-Induced Retinal Damage Model Cobalt Chloride-Induced Retinal Hypoxia Model	Silica Nanoparticles-Induced Retinal Damage Model Bright Light-Induced Retinal Degeneration Model
Genetically Engineered Models
Our proficiency in genetic engineering techniques enables us to create precise and reliable models that replicate the genetic alterations seen in Leber's Congenital Amaurosis.
Optional Models	Rpe65 Knockout Mouse Model Crb1 Knockout Mouse Model Transgenic PDE6B Mutation Mouse Model	CEP290 Mutation Knock-in Mouse Model GUCY2D Mutation Knock-in Mouse Model Transgenic RPGR Mutation Mouse Model
Optional Species	Mice, Rats, Non-human primates, Others

Additionally, we can offer other comprehensive Animal models services that focus on specific signaling pathways and molecular targets.

If our services interest you, please contact us at your earliest convenience for more details.

References

• Kumaran, N., et al., "Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions." Br J Ophthalmol, (2017). 101(9): p. 1147-1154.
• Takkar, B., et al., "Leber's Congenital Amaurosis and Gene Therapy." Indian J Pediatr, (2018). 85(3): p. 237-242.