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Retinal Cavernous Hemangioma (RCH) is an uncommon, benign and congenital vascular tumor localized to the retina that is usually unilateral and most common in children and young adults. At Protheragen, we provide an integrated approach to diagnostic and therapeutic development for Retinal Cavernous Hemangioma.
Retinal Cavernous Hemangioma is a rare vascular lesion of the eye, which is clinically benign and consists of small groups of vascular cavities resembling caverns. Most often, these lesions are solitary, unilateral and can be found in association with cerebral cavernous malformations. These tumors usually go unnoticed but can be problematic if they are located near the macula or result in the detachment of the retina because they can impair vision.
Fig.1 OCT image of retinal cavernous hemangioma. (Pawlik B., et al., 2022)The pathogenesis of Retinal Cavernous Hemangioma is mostly associated with genetic defects. Particularly, changes in the KRIT1/CCM1 gene are said to be involved, which points to a familial tendency much like those of cerebral cavernous malformations. KRIT1/CCM1 is critical in the maintenance of the vascular scaffold. Its mutations lead to the disruption of endothelial cell borders, initiating pathological vessel formation.
For familial cases, along with family history or the presence of CNS lesions, genetic testing provides valuable information for the diagnosis of retinal cavernous hemangioma. The underlying specific mutations of the condition may be determined by sequencing the KRIT1/CCM1, CCM2, and CCM3 genes. Genetic testing does more than confirm the diagnosis; it helps in patient and family counselling on the likelihood of vascular anomalies in other organs, which captures the essence of the long-term management and surveillance this diagnosis requires.
Anti-VEGF Therapy
Of late, anti-VEGF therapy has become a new therapeutics option for retinal cavernous hemangioma. Intravitreal injections of anti-VEGF agents like bevacizumab have been utilized off-label to address issues such as subretinal fluid and recurrent vitreous hemorrhage.
Systemic Therapies
The use of systemic therapies, such as infliximab, has been investigated with respect to retinal cavernous hemangioma. In some instances, infliximab's inhibition of tumor necrosis factor (TNF) has been shown to induce regression of vascular lesions. Unfortunately, systemic therapies are still under evaluation, and their effectiveness has yet to be proven.
At Protheragen, we provide a full scope of services for the development of diagnostics and therapeutics focused on retinal cavernous hemangioma. We specialize in everything from genetic testing and cutting-edge techniques to novel therapeutic development.
Protheragen provides multiple services, such as the creation of animal models, pharmacokinetics and pharmacodynamics studies, and histopathological examinations. The clients' research and development activities have strong and reliable data because of the advanced technologies and modern facilities at Protheragen. If you are interested in our services, please feel free to contact us.
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