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Uveal melanoma

Uveal melanoma



Overview

Uveal melanoma is the most common primary intraocular cancer in adults, originating in the eye's middle layer (iris, ciliary body, or choroid). It is a rare, aggressive tumor often diagnosed in the 6th decade, commonly causing flashes, floaters, or vision loss. Key treatments include radiation (brachytherapy, proton beam) or enucleation, with a high risk of metastasis, primarily to the liver. 

Symptoms

Vision Changes: Blurry or distorted vision in one eye is a common symptom.

Visual Disturbances: Seeing flashes of light (photopsias) or an increase in small, moving spots (floaters).

Dark Spot on the Iris: A noticeable, growing dark spot on the colored part of the eye.

Pupil Changes: A change in the size or shape of the pupil.

Vision Loss: A loss of peripheral (side) vision.

Physical Eye Changes: A bulging or protruding eye.

Pain/Redness: While often painless, some cases may involve eye pain or redness, or secondary conditions like glaucoma.

Causes

Genetic Mutations: The primary driver, specifically mutations in genes GNAQ and GNA11 found in over 80% of cases. BAP1 mutations are also linked to higher risk.

Physical Characteristics: People with light-colored eyes (blue, green) and fair skin are at higher risk, likely due to having less protective melanin.

Age: The risk increases with age, with most cases occurring in adults over 50.

Pre-existing Conditions: Having pre-existing ocular or oculodermal melanocytosis (nevus of Ota) or ocular nevi (moles).

Environmental Factors: While sun exposure is not as strongly linked as in skin cancer, UV exposure from artificial sources like welding has been implicated.

Risk Factors 

Physical Features: Fair skin, light hair, and light eye color (blue or grey) are significant, likely due to less melanin in the eye, which offers less protection against damage.

Race and Ethnicity: Individuals of Caucasian, particularly Northern European, descent have the highest risk.

Age: The risk increases with age, with a median age of 62.

Ocular Conditions:

Choroidal Nevi: Pre-existing moles (nevi) in the eye have a low (1 in 5000 to 1 in 8845) but present risk of malignant transformation.

Ocular/Oculodermal Melanocytosis: A condition with abnormal pigmentation in or around the eye.

Atypical Mole Syndrome: A high number of unusual moles.

Environmental Factors: UV light exposure (sunlight, tanning beds) and certain occupational exposures, such as arc welding.

Genetic Factors: While most cases are sporadic, some are linked to hereditary, such as BAP1 gene mutations. 

Complication

Metastasis (Life-Threatening): Up to 50% of cases, particularly with larger tumors, metastasize, with the liver being the most common site.

Vision-Threatening Eye Issues:

Retinal Detachment: Large tumors often cause serous detachment of the retina, leading to floaters, flashes, and vision loss.

Glaucoma: Increased eye pressure can result from tumor growth, leading to pain and permanent vision loss.

Hemorrhage: Vitreous or intraocular hemorrhage can occur.

Tumor Growth: Can cause distorted pupils (iris melanoma) or direct blockage of the visual axis.

Diagnosis

Ophthalmoscopy (Fundus Exam): A specialist uses a dilated eye exam to look for typical features of the tumor, such as a brownish mass.

Ultrasonography: Crucial for measuring the size, shape, and thickness of the tumor.

Optical Coherence Tomography (OCT): Provides detailed, cross-sectional images to differentiate melanoma from other lesions.

Fluorescein Angiography: A dye test used to examine blood vessels in the eye, which helps identify tumor-related changes.

Biopsy: A fine-needle aspiration biopsy (FNAB) may be used if the diagnosis is uncertain or to analyze the tumor for genetic markers that predict the risk of spread

Treatment

Plaque Brachytherapy (Radioactive Plaque): The most common method, placing a small, radioactive device near the tumor to destroy cells while sparing the eye.

Proton Beam Therapy: A precise form of particle radiation therapy.

Enucleation (Surgery): Surgical removal of the eye, typically reserved for large tumors, those causing significant pain, or those with significant extraocular extension.

Local Resection: Surgical removal of the tumor (endoresection or exoresection), sometimes combined with radiation.

Laser Therapy (Photocoagulation/Thermotherapy): Used less frequently for small, specific tumors.

Type of Doctor Department : An ocular oncologist

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