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Project Description

Please note that we are a research service provider, not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.

Oculodermal Melanocytosis

Oculodermal melanocytosis (ODM) is an uncommon congenital disease that presents with pigmentation in the skin and mucous membranes, chiefly within the vicinity of the ocular area. Protheragen offers specialized development services for diagnostics and therapeutics aimed at Oculodermal Melanocytosis.

Introduction to Oculodermal Melanocytosis

Oculodermal melanocytosis (ODM), or Nevus of Ota, is a congenital disorder that manifests with blue-grey to brown pigmentation present in the skin, mucous membranes, and even ocular tissues. This hyperpigmentation is restricted to the region supplied by the ophthalmic and mandibular branches of the trigeminal nerve. ODM is usually unilateral and more common in females, particularly in cohorts of Asian descent (1-2 per 1000 people). The condition is associated with significant aesthetic concerns and an increased risk of ophthalmic complications, including glaucoma and uveal melanoma.

Lacrimal melanocytoma and ocular melanocytosis in dogs.

Fig.1 Concurrent lacrimal gland melanocytoma and ocular melanocytosis in a dog. (Mitsui I., et al., 2022)

Diagnostic Methods for Oculodermal Melanocytosis

Multimodal Imaging Techniques
The advancement of multimodal imaging has greatly progressed the creation of diagnostic tools for Oculodermal Melanocytosis. With these new imaging modalities, the ocular features of ODM are well studied which makes it possible to identify and treat glaucoma and uveal melanoma at very early stages.
Fundus Autofluorescence (FAF)
FAF is a non-invasive imaging modality that assesses the retinal pigment epithelium (RPE) through the detection of emitted light from lipofuscin granules. Research shows that choroidal melanomas are frequently seen with plaque-like hyperautofluorescence which correlates with pigment augmentation and fibrous metaplasia, whereas nevi generally show hypoautofluorescence.
Enhanced Depth Imaging Optical Coherence Tomography (EDI-OCT)
Utilizing EDI-OCT permits the observation of cross-sectional structures of the choroid and the neighboring tissues at a remarkable resolution. For example, choroidal melanomas are typically associated with retinal and sub-retinal contour distortions, intra- and sub-retinal fluid presence, and RPE abnormality manifestations.

Therapeutics Development for Oculodermal Melanocytosis

Depigmenting Agents

Topical agents like retinoids, hydroquinone, and corticosteroids work for the purpose of lightening hyperpigmented lesions. These agents act by interfering with the activity of tyrosinase which is the enzyme that catalyzes the production of melanin.

MEK Inhibitors

With respect to the role of the MAPK/ERK pathway in ODM, MEK inhibitors trametinib and cobimetinib are being studied as possible systemic therapies. These drugs block mutated GNAQ/GNA11 downstream signaling, which may decrease the melanocyte growth.

Our Services

Oculodermal Melanocytosis is a complex disorder that includes diagnostic and therapeutic aspects, which makes it a multi-faceted condition. Protheragen is ODM therapeutics development's leading company. We offer support through the development new diagnostics and therapies as part of their services.

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

GNAQ Mutation Mouse Models
c-KIT Mutation Mouse Models
GNAQ Knock-in Zebrafish Models
Induced Pigmentation Rabbit Models

The aim of Protheragen's preclinical research services is to assist in the creation of new diagnostics and therapeutics for Oculodermal Melanocytosis. Our team of specialists leverages the newest ODM technologies to study its pathogenesis, concentrating on its genetic mutations and other disarrayed developmental processes. We offer comprehensive preclinical studies, including in vitro and in vivo models, to evaluate the efficacy and safety of potential therapeutic agents. If you are interested in our services, please feel free to contact us.

References

Mitsui, Ikki, and Seigi Nishimura. "Concurrent lacrimal gland melanocytoma and ocular melanocytosis in a dog." Journal of Veterinary Diagnostic Investigation 34.1 (2022): 121-125.
Abdolrahimzadeh, Solmaz, et al. "An update on ophthalmological perspectives in oculodermal melanocytosis (Nevus of Ota)." Graefe's Archive for Clinical and Experimental Ophthalmology 261.2 (2023): 291-301.