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- Buphthalmos
Buphthalmos is a condition characterized by the enlargement of the eyeball, typically observed in infants and young children. Protheragen, being a prominent pharmaceutical research services provider, aims to provide global buphthalmos diagnostics and therapeutic development services to international pharmaceutical companies.
Buphthalmos is usually associated with glaucoma due to its congenital origin, which is a type of glaucoma caused by developmental anomalies in the primary angle of the eye. This anomaly is characterized by abnormal development of the trabecular meshwork that is responsible for the drainage of aqueous humour. The outflow obstruction leads to elevated IOP, which in turn stretches the cornea and sclera, thus enlarging the globe. The manifestations include corneal oedema, an increase in the diameter of the cornea, and optic nerve cupping. Various genetic mutations such as those affecting CYP1B1 have emerged as some of the most important aspects of buphthalmos.
Genetic Sequencing and Mutation Analysis
Molecular diagnostics serve an important purpose in managing cases of buphthalmos. With the help of genetic sequencing methods like next-generation sequencing (NGS), causative mutations can be discovered much more efficiently. For example, roughly 20% of primary congenital glaucoma patients possess mutations within the CYP1B1 genes. These mutations can alter the development of the structures of the anterior chamber which, in turn, will result in raised intraocular pressure (IOP). More advanced sequencing technologies allow for the detection of these mutations which leads to early diagnosis and more tailored therapeutics approaches.
Functional Assays and Biomarker Identification
The evaluation of biometric parameters is important, which is even more prominent as the mutations involving alteration of genes and their roles in processes cells undergo is evaluated. For instance, the CYP1B1 mutation has been shown to disrupt the activities of the cytochrome P450 1B1 enzyme responsible for retinoic acid metabolism, resulting in pathological changes in the development of the trabecular meshwork. Moreover, the detection of markers is also important. Studies where the aqueous humour was analysed showed increased levels of some cytokines and growth factors in buphthalmos cases, which may be potential markers of disease severity.
| Therapeutics | Description | Research Stage |
| Beta-blockers | Topical beta-blockers (e.g., timolol) are used to lower intraocular pressure (IOP) by decreasing fluid production in the eye. They are often the first line of therapeutics for managing IOP in buphthalmos. | Approved |
| Carbonic Anhydrase Inhibitors | These medications (e.g., acetazolamide) can be administered orally or as eye drops to reduce fluid production in the eye, lowering IOP. | Approved |
| Prostaglandin Analogs | Prostaglandin analogs (e.g., latanoprost) enhance the drainage of aqueous humor, thereby reducing IOP. However, they are not FDA-approved for children and are used with caution in pediatric cases. | Approved |
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.
Protheragen is at the forefront of developing innovative diagnostics and therapeutics for buphthalmos. Our comprehensive services include:
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