Iris nevus growth into melanoma: analysis of 1611 consecutive eyes: the ABCDEF guide.

PURPOSE: To determine clinical features predictive of growth of iris nevus into melanoma. DESIGN: Retrospective, comparative case series. PARTICIPANTS: A total of 1611 consecutive patients referred to an ocular oncology center with iris nevus. INTERVENTION: Observation and photographic documentation. MAIN OUTCOME MEASURES: Growth into melanoma. RESULTS: The mean age at referral for iris nevus was 51 years (median, 54; range, <1-94 years). At presentation, the mean tumor basal diameter was 3 mm (median, 3 mm; range, <1-12 mm) and mean tumor thickness was 0.8 mm (median, 0.5 mm; range, 0-5 mm). All patients were initially diagnosed with benign iris nevus. Growth of iris nevus to melanoma was confirmed in 2% of eyes (n = 27) over a mean follow-up of 68 months (median, 46 months; range, 3-465 months). By Kaplan-Meier estimates, iris nevus growth to melanoma occurred in <1%, 3%, 4%, 8%, and 11% at 1, 5, 10, 15, and 20 years, respectively. Factors predictive of iris nevus growth to melanoma by multivariable analysis included age ≤ 40 years at presentation (hazard ratio [HR], 3), episode of hyphema (HR, 9), 4:00 to 9:00 clock hour location of tumor (HR, 9), diffuse tumor (involving entire iris surface) (HR, 14), ectropion uveae (HR, 4), and feathery tumor margins (HR, 3). Additional important factors by univariable analysis included tumor seeding on the iris or in the anterior chamber angle, feeder vessels, and nodule formation. These factors can be remembered using the mnemonic ABCDEF, representing A = age young, B = blood, C = clock hour inferior, D = diffuse, E = ectropion, and F = feathery margin. CONCLUSIONS: In an analysis of 1611 cases of iris nevus referred for evaluation at an ocular oncology center, growth into melanoma occurred in 8% by 15 years. Risk factors for growth, identified by ABCDEF included Age young, Blood (hyphema), Clock hour inferior, Diffuse configuration, Ectropion uveae, and Feathery tumor margin.

Clinical survey of 3680 iris tumors based on patient age at presentation.

OBJECTIVE: To report the spectrum of iris lesions based on patient age at presentation. DESIGN: Retrospective, nonrandomized, single-center case series. PARTICIPANTS: We included 3680 iris tumors in 3451 patients. METHODS: Chart review. MAIN OUTCOME MEASURES: Diagnostic category based on age. RESULTS: The mean age at presentation was 48 years and there were 449 (12%) tumors in children (≤20 years), 788 (21%) in young adults (21-40 years), 1308 (36%) in mid adults (41-60 years), and 1135 (31%) in senior adults (>60 years). Of 3680 tumors, the diagnostic category was cystic (n = 768; 21%) or solid (n = 2912; 79%). The cystic tumors originated from iris pigment epithelium (IPE; n = 672; 18%) or iris stroma (n = 96; 3%). The solid tumors included melanocytic (n = 2510; 68%) and nonmelanocytic (n = 402; 11%). The melanocytic tumors comprised nevus (n = 1503; 60%), melanocytoma (n = 68; 3%), melanoma (n = 645; 26%), and melanocytosis (n = 64; 3%). Of 2510 melanocytic tumors, the first and second most common diagnoses by age (children, young adult, mid adult, senior adult) were nevus (53%, 57%, 63%, and 63%, respectively) and melanoma (17%, 27%, 26%, and 27%, respectively). The nonmelanocytic tumors included categories of choristomatous (n = 4; <1%), vascular (n = 57; 2%), fibrous (n = 2; <1%), neural (n = 3; <1%), myogenic (n = 2;, <1%), epithelial (n = 35; 1%), xanthomatous (n = 8; <1%), metastasis (n = 67; 2%), lymphoid (n = 12; <1%), leukemic (n = 2; <1%), secondary (n = 12; <1%), and nonneoplastic simulators (n = 198; 5%). The median age (in years) at diagnosis included cystic (39), melanocytic (52), choristomatous (0.7), vascular (56), fibrous (53), neural (8), myogenic (42), epithelial (63), xanthomatous (1.9), metastasis (60), lymphoid (57), leukemic (25.5), secondary (59), and nonneoplastic simulators (49). Overall, the 3 most common specific diagnoses (children, young adult, mid adult, senior adult) were nevus (25%, 36%, 47%, and 47%, respectively), IPE cyst (28%, 30%, 15%, and 14%, respectively), and melanoma (8%, 16%, 20%, and 19%, respectively). CONCLUSIONS: In an ocular oncology practice, the spectrum of iris tumors includes cystic (21%) and solid (79%) tumors. The solid tumors were melanocytic (68%) or nonmelanocytic (11%). At all ages, the most common specific diagnoses were nevus (42%), IPE cyst (19%), and melanoma (17%).

Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C.

Niemann-Pick Disease, type C (NPC) is a fatal, neurodegenerative, lysosomal storage disorder. It is a rare disease with broad phenotypic spectrum and variable age of onset. These issues make it difficult to develop a universally accepted clinical outcome measure to assess urgently needed therapies. To this end, clinical investigators have defined emerging, disease severity scales. The average time from initial symptom to diagnosis is approximately 4 years. Further, some patients may not travel to specialized clinical centers even after diagnosis. We were therefore interested in investigating whether appropriately trained, community-based assessment of patient records could assist in defining disease progression using clinical severity scores. In this study we evolved a secure, step wise process to show that pre-existing medical records may be correctly assessed by non-clinical practitioners trained to quantify disease progression. Sixty-four undergraduate students at the University of Notre Dame were expertly trained in clinical disease assessment and recognition of major and minor symptoms of NPC. Seven clinical records, randomly selected from a total of thirty seven used to establish a leading clinical severity scale, were correctly assessed to show expected characteristics of linear disease progression. Student assessment of two new records donated by NPC families to our study also revealed linear progression of disease, but both showed accelerated disease progression, relative to the current severity scale, especially at the later stages. Together, these data suggest that college students may be trained in assessment of patient records, and thus provide insight into the natural history of a disease.