Case 07 - Oncology, glaucoma, and pediatric alignment
55-year-old white man - Painless progressive unilateral visual field loss - Posterior pole mass
This 55-year-old white man comes to your office with complaints of painless but progressive visual field loss in one eye. The accompanying photograph was taken from the affected eye.
Prior cutaneous melanoma, family history (BAP1 syndrome, uveal melanoma), choroidal nevi, duration/progression, floaters/flashes (associated RD), weight loss/abdominal pain/jaundice (liver metastases - preferred metastatic site), prior ocular trauma/radiation.
B-scan US (acoustic hollowness, choroidal excavation, orbital shadowing - measures tumor height; key test). MRI orbits (T1 hyperintense, T2 hypointense - melanin). Systemic staging: LFTs, LDH, liver MRI/US, CXR. Genetic testing: monosomy 3 + 8q amplification = high metastatic risk.
Choroidal melanoma (most common primary intraocular malignancy in adults), choroidal metastasis (breast #1 in women, lung #1 in men - overall most common intraocular malignancy), choroidal hemangioma (orange-red, posterior pole), choroidal nevus (flat, <2 mm, no SRF - ABCDE risk factors), disciform scar (AMD). Treatment Small: observation vs. TTT/plaque brachytherapy. Medium: I-125 plaque brachytherapy (COMS trial gold standard). Large: enucleation. Proton beam for posterior tumors.
Choroidal melanoma has 50% 10-year metastatic rate regardless of treatment - liver MRI every 6-12 months for life is mandatory. Monosomy 3 on cytogenetics = highest metastatic risk. ABCDE nevus risk factors for transformation: subretinal fluid, symptoms, Diameter >5 mm, Edge touchni g disc, Orange lipofuscin pigment.
History Prior cutaneous melanoma, family history (BAP1 syndrome, uveal melanoma), choroidal nevi, duration/progression, floaters/flashes (associated RD), weight loss/abdominal pain/jaundice (liver metastases - preferred metastatic site), prior ocular trauma/radiation. Diagnostics B-scan US (acoustic hollowness, choroidal excavation, orbital shadowing - measures tumor height; key test). MRI orbits (T1 hyperintense, T2 hypointense - melanin). Systemic staging: LFTs, LDH, liver MRI/US, CXR. Genetic testing: monosomy 3 + 8q amplification = high metastatic risk. DDx Choroidal melanoma (most common primary intraocular malignancy in adults), choroidal metastasis (breast #1 in women, lung #1 in men - overall most common intraocular malignancy), choroidal hemangioma (orange-red, posterior pole), choroidal nevus (flat, <2 mm, no SRF - ABCDE risk factors), disciform scar (AMD). Treatment Small: observation vs. TTT/plaque brachytherapy. Medium: I-125 plaque brachytherapy (COMS trial gold standard). Large: enucleation. Proton beam for posterior tumors. Metastatic: liver-directed therapy. NOTE: uveal melanoma does NOT respond to ipilimumab/checkpoint inhibitors (GNA11/GNAQ mutations, not BRAF). TEACHING PEARL Choroidal melanoma has 50% 10-year metastatic rate regardless of treatment - liver MRI every 6-12 months for life is mandatory. Monosomy 3 on cytogenetics = highest metastatic risk. ABCDE nevus risk factors for transformation: subretinal fluid, symptoms, Diameter >5 mm, Edge touchni g disc, Orange lipofuscin pigment.
