115例视盘黑色素细胞瘤的病例报道:2004年Samuel Johnson纪念讲座第一部分

Purpose To report clinical variations and the natural course of melanocytoma o f the optic disc. Patients and methods A retrospective study was conducted on a consecutive series of patients with melanocytoma of the optic disc who were evaluated at the Ocular Oncology Service at Wills Eye Hospital. Demographic information and variations i n appearance and size of the tumor and local ocular complications were noted. Fr equency of tumor growth and malignant transformation was recorded. Clinical fact ors, including patient data and tumor features, were analyzed for their impact o n visual acuity loss of 2 or more Snellen lines and the tumor growth, using Cox proportional hazards regression models. Kaplan-Meier survival estimates of prob ability of visual acuity loss of 2 or more Snellen lines and probability of tumo r growth were performed as a function of time from the initial examination. Main outcome measures Visual acuity loss of 2 or more Snellen lines, tumor growth, a nd malignant transformation of the tumor. Results There were 115 patients (116 e yes) with melanocytoma of the optic disc. The mean age at diagnosis was 50 years ; 38%of patients were male and 62%of patients were female; 65%of patients wer e white, 29%of patients were African American, and 6%of patients were Asian, H ispanic, Indian, or Arabic. The lesion was unilateral in 99%of patients. Visual symptoms that seemed to be related to the melanocytoma were present in 24%of p atients, and an afferent pupillary defect was noted in 9%of patients. Associate d ocular abnormalities included ocular melanocytosis (8%), racial melanosis (7 %), optic nerve hypoplasia (2%), and retinitis pigmentosa (1%). The melanocyt oma was dark brown to black in 100%of patients. The mean tumor diameter was 2 m m and the mean thickness was 1 mm. Associated findings included a choroidal comp onent (54%), retinal component (30%), optic disc edema (25%), retinal edema ( 16%), localized subretinal fluid (14%), retinal exudation (12%), retinal hemo rrhage (5%), vitreous seeds (4%), and retinal vein obstruction (3%). Fluoresc ein and indocyanine green angiography typically showed persistent hypofluorescen ce of the lesion. Using Kaplan-Meier survival curves, related visual loss occur red in 18%of patients by 10 years, and minor tumor enlargement occurred in 11% of patients by 5 years and in 32%of patients by 10 years. Malignant transformat ion was documented in 2 patients (2%). Conclusions Although melanocytoma of the optic disc generally is considered to be a benign, stationary lesion, it can pr oduce several local complications, can cause visual loss, can grow slowly, and, rarely, can undergo malignant transformation into melanoma. Patients with optic disc melanocytoma should undergo periodic ocular examination.

1643例黑色素细胞结膜肿瘤和非黑色素细胞结膜肿瘤的临床调查

Objective To report the spectrum and frequency of melanocytic and nonmelanocyt ic conjunctival tumors in an ocular oncology practice. Design Retrospective noninterventional case series. Participants One thousand six hundred forty-three consecutive patients with a c onjunctival mass evaluated at an ocular oncology department. Methods A chart rev iew was conducted to obtain the clinical features of the patient and tumor and t o tabulate and categorize the diagnoses. Main outcome measures Tumor diagnosis o verall and relative to patient age, race, and gender and relative to tumor locat ion and laterality. Results In 1643 consecutive patients, the tumor was classifi ed as melanocytic in 872 cases (53%) and nonmelanocytic in 771 cases (47%). Th e nonmelanocytic categories included congenital choristomatous (n=40 2%), epi thelial (n=219 13%), vascular (n=63 4%), fibrous (n=7 < 1%), neural (n= 1 < 1%), xanthomatous (n=1 < 1%), myxomatous (n=1 < 1%), lipomatous (n=2 3 1%), lacrimal gland origin (n=12 < 1%), lymphoid (n=128 8%), leukemic (n=3 < 1%), metastatic (n=13 < 1%), secondary (n=54 3%) tumors, and no n-neoplastic lesions simulating a tumor (n=206 13%). Of the 872 melanocytic lesions, the specific tumor diagnosis was nevus in 454 cases (52%), melanoma in 215 (25%), and primary acquired melanosis in 180 (21%). Patients with chorist omatous, vascular, fibrous, xanthomatous, and myxomatous tumors presented at a m ean age of< 40 years, and those with malignant epithelial, lipomatous, leukemic, and secondary tumors presented at a mean age of >60. Of the 219 patients with e pithelial tumors, 80%occurred inmales, whereas the incidence of melanocytic les ions was equal in males and females. African-American patients represented only 7%of epithelial tumors,< 1%of melanomas, and 8%of lymphoid tumors. Conclusio n Conjunctival tumors were of melanocytic origin in 53%of cases and nonmelanocy tic origin in 47%. Overall, melanocytic tumors, epithelial tumors, and lymphoid tumors accounted for 74%of all cases. These tumors were far more common in Cau casian patients, and epithelial tumors were found more frequently in men.

肿瘤相关的色素上皮钱币状缺失

PURPOSE: To report a case of bilateral diffuse uveal melanocytic proliferation (BDUMP) that had areas of retinal pigment epithelial loss. DESIGN: Observational case report. METHODS: A 67-year-old woman with a history of uterine cancer presented with 4 months of bilateral visual loss. RESULTS: Although B-scan ultrasonography revealed both small shallow serous retinal and choroidal detachments in the periphery, the choroid was normal in thickness. Fluorescein angiography revealed numerous nummular-shaped areas of transmission defects suggesting retinal pigment epithelium loss. Autofluorescence photography showed complete absence of autofluorescence in these nummular areas, and optical co-herence tomography showed segmental areas with lack of any signal from affected areas of the retinal pigment epithelium, suggesting complete loss of retinal pigment epithelium cells. CONCLUSIONS: Although the fundus findings in BDUMPhave been attributed to the proliferation of uveal melanocytic cells in the outer choroid in previous papers, our patient had nummular areas of loss of the retinal pigment epithelium as the apparent reason for visual decline.

Branchio-oculo-facial综合征新的眼部表现

Purpose: To report new ocular manifestations of branchio- oculo- facial (BOF) syndrome. Design: Case report. Methods: A 10- year- old girl with known BOF syndrome was referred because of a fundus lesion in her left eye. Results: She had undergone excision of a left orbital dermoid cyst at age 18 months and a branchial cleft fistula from the right side of neck at age 4 years. Examination disclosed openings of sinus tracts on each side of the nose connecting the lacrimal sac to skin. In the right eye, an iris pigment epithelial cyst was confirmed with ultrasound biomicroscopy. In the left eye, there was a combined hamartoma of the retina and retina pigment epithelium. Conclusion: BOF syndrome can display mild to severe craniofacial, auricular, oral, and ophthalmic anomalies. In this case, the ophthalmic manifestations included lacrimal sac fistula, orbital dermoid cyst, iris pigment epithelial cyst, and combined hamartoma of the retina and retinal pigment epithelium.

典型性Bartter综合征患者巩膜脉络膜钙化

Purpose: To report sclerochoroidal calcification in a patient with classic Bartter’ s syndrome. Design: Observational case report. Methods: A 42- year- old woman with a 26- year history of classic Bartter’ s syndrome was found to have bilateral fundus tumors. The patient presented initially with quivering lips and hand stiffness at age 6 years but was not diagnosed until age 16 years. Treatment included magnesium and potassium supplementation and Amiloride therapy. Results: On ocular examination, there were multifocal, yellow- white, geographic, solid choroidal lesions along the superior and inferior retinal vascular arcades in both eyes. Ultrasonography showed echogenic, placoid calcified lesions at the level of the sclera and choroid, consistent with bilateral sclerochoroidal calcification. Conclusions: Sclerochoroidal calcification can be associated with classic Bartter’ s syndrome.