- Home
- Solutions
- By Diseases
- Congenital Ophthalmic Diseases
- Microspherophakia (MSP)
Microspherophakia (MSP) is a rare congenital eye disorder characterized by a small, spherically-shaped crystalline lens. Protheragen is committed to advancing the diagnostics and therapeutics of microspherophakia through innovative research and development services.
Description of microspherophakia which is a birth defect shows how unique its morphology is. It is where children are born with a small lens that has an increased anteroposterior diameter and reduced lens equatorial diameter. Children who suffer from this condition face extreme ocular problems; bilateral presentation has an association with subluxation of the lens, high myopia, and secondary glaucoma. The surrounding zonules and capsular tension cause the lens to stay small and spherical which increases risks of angle-closure glaucoma and corneal dysfunction. After attaining corneal endothelial dysfunction, the next step where patients face the threat of complete blindness makes early intervention crucial.
Fig.1 Decision tree for microspherophakia. (Venkataraman, P., et al., 2022)Microspherophakia diagnostics is incorporating genetic testing more with time owing to systematic associations. A number of genes including, but not limited to, FBN1, ADAMTS10, ADAMTS17, and LTBP2 have been suggested as potential causal mutations of the condition. Genetic analysis helps to identify specific mutations that are causative of microspherophakia, enabling diagnosis confirmation and evaluation of disease course. In moderate forms mutations in LTBP2 are the most common, while FBN1 mutations are associated with Weill-Marchesani syndrome.
Pharmacological Interventions
In this particular case, the pharmacological interventions implemented in response to the microspherophakia seeks to treat its complications, primarily the glaucoma and the myopia. The beta-blockers, the prostaglandin analogues and the carbonic anhydrase inhibitors constitute the triad of standard antiglaucoma medication utilized during secondary glaucomas in conjunction with the control of intraocular pressure.
Gene Therapy Approaches
Efforts to study microspherophakia through gene therapy are still at the beginning stage. For example, work is in progress on CRISPR-Cas9 'scissors' that are molecules to reverse the mutations of the LTBP2 and ADAMTS10 genes. There are no human studies yet for microspherophakia, but some preclinical studies are underway.
Protheragen is committed to the development of diagnostic and therapeutic solutions for microspherophakia. We carefully plan diagnostic and therapeutic approaches and always work towards developing new methods and tools.
The preclinical studies provided by Protheragen are beneficial for the development of therapies for microspherophakia. We conduct systematic preclinical research so that new treatment methodologies are safe and useful before they are instituted in clinical settings. If you are interested in our services, please feel free to contact us.
References
Copyright © Protheragen. All rights reserved.