Familial Acorea, Microphthalmia and Cataract Syndrome

Familial Acorea, Microphthalmia and Cataract Syndrome presents significant challenges in terms of accurate diagnosis and effective therapeutic interventions. As a leading provider of specialized diagnostic and therapeutic development services, Protheragen is at the forefront of unraveling the complexities of this rare condition.

Introduction to Familial Acorea, Microphthalmia and Cataract Syndrome

Familial Acorea, Microphthalmia, and Cataract Syndrome is a rare genetic disorder characterized by the complete absence of the pupil (acorea), small eye size (microphthalmia), and the presence of cataracts. This syndrome presents significant challenges in terms of vision and ocular health, often requiring specialized therapeutic interventions. The condition is typically inherited in an autosomal dominant pattern, with significant variability in expression and severity across affected individuals.

Fig.1 The stages of human lens development. (Bell S. J., et al., 2020)

Genetic Basis of Familial Acorea, Microphthalmia, and Cataract Syndrome

The genetic basis of Familial Acorea, Microphthalmia and Cataract Syndrome is complex and multifaceted. Linkage analysis has implicated chromosomes 1, 5, 8, 11, and 17 as potential locations for the causative gene. While the specific gene has not been identified, the condition is believed to result from mutations in genes critical to ocular development.

Table 1. Genes associated with isolated cataract. (Bell S. J., et al., 2020)

Diagnostics Development for Familial Acorea, Microphthalmia and Cataract Syndrome

The diagnostic landscape for Familial Acorea, Microphthalmia and Cataract Syndrome has been evolving with advancements in genetic testing. Next-generation sequencing (NGS) has become a pivotal tool in identifying the genetic underpinnings of this syndrome. By employing targeted gene panels and whole-genome sequencing, researchers have been able to pinpoint mutations in specific genes associated with Familial Acorea, Microphthalmia and Cataract Syndrome. For instance, linkage analysis has narrowed down potential candidate genes to chromosomes 1, 5, 8, 11, and 17, although the specific genes remain to be identified.

Our Services

Protheragen is at the forefront of developing therapeutics for ophthalmic diseases such as Familial Acorea, Microphthalmia and Cataract Syndrome. Our services include comprehensive solutions from genetic diagnostics to customized therapy development strategies.

Diagnostics Development

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

Therapeutic Development

• Small Molecule Drug
• Cell Therapy
• Gene Therapy
• Therapeutic Antibody
• Therapeutic Peptide
• Therapeutic Protein
• Customized Therapy Development

Disease Models

• Cataract Syndrome Animal Models
• Microphthalmia Animal Models
• Familial Acorea, Microphthalmia and Cataract Syndrome Animal Models

Optional Species: Mouse, Rat, Zebrafish, Guinea-Pigs

Our preclinical research services, including pharmacokinetic and toxicology studies, focus on the development of novel therapeutics for Familial Acorea, Microphthalmia and Cataract Syndrome. Our team of scientists is dedicated to understanding the molecular mechanisms underlying the syndrome and identifying potential drug targets. If you are interested in our services, please feel free to contact us.

References

• Bell, Suzannah J., et al. "Congenital cataract: A guide to genetic and clinical management." Therapeutic Advances in Rare Disease 1 (2020): 2633004020938061.
• Kondo, Hiroyuki, et al. "Familial acorea, microphthalmia and cataract syndrome." British Journal of Ophthalmology 97.9 (2013): 1155-1160.