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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%).

Spatial representation of expression of LCA/EOSRD genes.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

Target Gene Vector/Type Phase Starting Year Status NCT Identifier
RPE65 V2-CBSB-hRPE65 1 2007 Active, not recuiting 00481546
AV2-hRPE65v2 (voretigene neparvovec-rzyl) 1 2007 Active, not recuiting 00516477
CEP90 R-110 (antisense oligonucleotide) 1/2 2017 Completed 03140969
AV5 (AGN-151,587 or EDIT-101) 1 2019 recuiting 03872479

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 ModelsExperimental Mice Icon (Creative Biolabs AI).
  • 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, including CRISPR/Cas9 technology, enables us to create precise and reliable models that replicate the genetic alterations seen in Leber's Congenital Amaurosis.
Optional ModelsExperimental Mice Icon (Creative Biolabs AI).
  • 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.


  • 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.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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