User login
Background
Choroidal malignant melanoma is a relatively rare condition, yet it remains the most common primary intraocular malignancy in adults, affecting approximately 5 individuals per million each year in the United States. Associated risk factors include fair skin, light-colored eyes, ocular melanocytosis, and BAP1 genetic mutations. While 13% of patients presenting with choroidal melanoma are asymptomatic, some symptoms can include photopsia, floaters, blurred vision, and progressive visual field loss.
Case Presentation
We present a case of choroidal melanoma in a 57-year-old male with a past medical history of hypertension, hyperlipidemia, major depressive disorder, and alcohol use disorder. This patient presented to the clinic following a detoxification admission, reporting one week of progressive vision loss in the left eye. Upon initial physical examination, the patient exhibited left superior quadrantanopia, with a visual acuity of 20/40 measured in the left eye. Initial imaging with CT head identified an intraocular hyperdensity within the left globe, raising concerns for potential retinal detachment. Urgent ophthalmologic evaluation revealed an afferent pupillary defect and a large choroidal lesion adjacent to the optic nerve head. Ultrasonography showed a low internal reflectivity mass (5.36 mm by 9.05 mm), and a subsequent dilated fundus examination confirmed a classic dome-shaped choroidal melanoma (11.5 mm by 16.5 mm). Gene expression profiling demonstrated a class 1b uveal melanoma with PRAME positivity and mutations in GNAQ and SF3B1. Comprehensive staging scans were negative for metastatic disease. The patient received four treatment sessions of proton beam therapy, which resulted in rapid improvements in his visual fields. For long-term management, he was scheduled for close ophthalmologic follow-up and regular imaging of the chest and abdomen every six months to monitor for recurrence.
Conclusions
This case highlights the challenges of diagnosing choroidal melanoma in the primary care setting and the importance of multidisciplinary involvement, multimodal imaging, and gene expression profiling in facilitating early diagnosis and treatment.
Background
Choroidal malignant melanoma is a relatively rare condition, yet it remains the most common primary intraocular malignancy in adults, affecting approximately 5 individuals per million each year in the United States. Associated risk factors include fair skin, light-colored eyes, ocular melanocytosis, and BAP1 genetic mutations. While 13% of patients presenting with choroidal melanoma are asymptomatic, some symptoms can include photopsia, floaters, blurred vision, and progressive visual field loss.
Case Presentation
We present a case of choroidal melanoma in a 57-year-old male with a past medical history of hypertension, hyperlipidemia, major depressive disorder, and alcohol use disorder. This patient presented to the clinic following a detoxification admission, reporting one week of progressive vision loss in the left eye. Upon initial physical examination, the patient exhibited left superior quadrantanopia, with a visual acuity of 20/40 measured in the left eye. Initial imaging with CT head identified an intraocular hyperdensity within the left globe, raising concerns for potential retinal detachment. Urgent ophthalmologic evaluation revealed an afferent pupillary defect and a large choroidal lesion adjacent to the optic nerve head. Ultrasonography showed a low internal reflectivity mass (5.36 mm by 9.05 mm), and a subsequent dilated fundus examination confirmed a classic dome-shaped choroidal melanoma (11.5 mm by 16.5 mm). Gene expression profiling demonstrated a class 1b uveal melanoma with PRAME positivity and mutations in GNAQ and SF3B1. Comprehensive staging scans were negative for metastatic disease. The patient received four treatment sessions of proton beam therapy, which resulted in rapid improvements in his visual fields. For long-term management, he was scheduled for close ophthalmologic follow-up and regular imaging of the chest and abdomen every six months to monitor for recurrence.
Conclusions
This case highlights the challenges of diagnosing choroidal melanoma in the primary care setting and the importance of multidisciplinary involvement, multimodal imaging, and gene expression profiling in facilitating early diagnosis and treatment.
Background
Choroidal malignant melanoma is a relatively rare condition, yet it remains the most common primary intraocular malignancy in adults, affecting approximately 5 individuals per million each year in the United States. Associated risk factors include fair skin, light-colored eyes, ocular melanocytosis, and BAP1 genetic mutations. While 13% of patients presenting with choroidal melanoma are asymptomatic, some symptoms can include photopsia, floaters, blurred vision, and progressive visual field loss.
Case Presentation
We present a case of choroidal melanoma in a 57-year-old male with a past medical history of hypertension, hyperlipidemia, major depressive disorder, and alcohol use disorder. This patient presented to the clinic following a detoxification admission, reporting one week of progressive vision loss in the left eye. Upon initial physical examination, the patient exhibited left superior quadrantanopia, with a visual acuity of 20/40 measured in the left eye. Initial imaging with CT head identified an intraocular hyperdensity within the left globe, raising concerns for potential retinal detachment. Urgent ophthalmologic evaluation revealed an afferent pupillary defect and a large choroidal lesion adjacent to the optic nerve head. Ultrasonography showed a low internal reflectivity mass (5.36 mm by 9.05 mm), and a subsequent dilated fundus examination confirmed a classic dome-shaped choroidal melanoma (11.5 mm by 16.5 mm). Gene expression profiling demonstrated a class 1b uveal melanoma with PRAME positivity and mutations in GNAQ and SF3B1. Comprehensive staging scans were negative for metastatic disease. The patient received four treatment sessions of proton beam therapy, which resulted in rapid improvements in his visual fields. For long-term management, he was scheduled for close ophthalmologic follow-up and regular imaging of the chest and abdomen every six months to monitor for recurrence.
Conclusions
This case highlights the challenges of diagnosing choroidal melanoma in the primary care setting and the importance of multidisciplinary involvement, multimodal imaging, and gene expression profiling in facilitating early diagnosis and treatment.