What symptoms should be looked for when screening for ocular melanoma in individuals with a BRCA2 (Breast Cancer Gene 2) mutation?

Symptoms to Look for in BRCA2 Carriers When Screening for Ocular Melanoma

BRCA2 carriers should undergo annual eye examinations to screen for ocular melanoma, focusing on specific symptoms and signs that may indicate early disease development. 1

Key Symptoms and Signs to Monitor

• Visual changes: Any sudden or progressive changes in vision, including blurred vision, visual field defects, or floaters 1, 2
• Eye pain: Unexplained discomfort or pain in the eye 2
• Visible lesions: Any new or changing pigmented spots on the iris or visible through the pupil 1
• Photopsia: Flashes of light in the visual field 2
• Metamorphopsia: Distortion of visual images 2

Screening Recommendations for BRCA2 Carriers

• Annual comprehensive eye examination by an ophthalmologist is recommended for all BRCA2 carriers, as there is evidence suggesting an association between BRCA2 mutations and ocular melanoma 3, 1
• Dilated fundus examination should be performed without exception during these annual visits to thoroughly evaluate the posterior segment of the eye 2
• Slit lamp examination to carefully assess the iris and anterior chamber 1
• Documentation with photography of any suspicious lesions to track changes over time 1

Risk Assessment and Monitoring

• The estimated prevalence of BRCA2 mutations in patients with ocular melanoma is approximately 3% (95% CI 0-10%), indicating a small but significant association 4
• BRCA2 carriers with a personal history of breast cancer may have a higher risk of developing ocular melanoma and should be monitored more closely 5
• Any suspicious nevus in the eye should be referred for a second opinion and close monitoring 2

Common Pitfalls to Avoid

• Delayed referral: One of the most significant factors affecting treatment outcomes is delayed referral. Any suspicious findings should prompt immediate referral to an ocular oncologist 2
• Incomplete examination: Failure to perform dilated fundus examinations can lead to missed diagnoses 2
• Assuming stability: Even long-standing ocular nevi can transform into melanomas, so regular monitoring of any pigmented lesions is essential 2
• Overlooking family history: Patients with BRCA2 mutations and a family history of ocular melanoma should receive more intensive surveillance 6

Differential Diagnosis Considerations

• Choroidal nevus: Benign pigmented lesion that may be difficult to distinguish from early melanoma 3
• Choroidal hemangioma: Elevated orange-red mass with specific vascular characteristics 3
• Central serous chorioretinopathy: Condition causing fluid accumulation under the retina 3
• Other ocular tumors: Including choroidal metastases and choroidal osteoma 3

Follow-up Protocol

• More frequent examinations (every 6 months) may be necessary if there is a personal or family history of melanoma or if suspicious lesions are identified 1
• Prompt referral to an ocular oncologist for any suspicious findings 2
• Concurrent staging examinations should not delay referral to specialized ocular oncology services 2