A quantitative assessment of the burden and distribution of lisch nodules in adults with neurofibromatosis type 1

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 11, 2009, Pages 5035-5043

  Boley, Sean ^a   Sloan, Jennifer L ^b   Pemov, Alexander ^b   Stewart, Douglas R ^b  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROFIBROMIN; RAB11 PROTEIN;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA DAMAGE; ETHNICITY; EXON; EYE COLOR; FEMALE; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HAMARTOMA; HUMAN; IRIS TUMOR; LISCH NODULES; MAJOR CLINICAL STUDY; MALE; NEUROFIBROMATOSIS; PREDICTION; PRIORITY JOURNAL; QUANTITATIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; SUN EXPOSURE; TUMOR LOCALIZATION; TUMOR VOLUME; ULTRAVIOLET RADIATION;

ADOLESCENT; ADULT; AGED; EYE COLOR; FEMALE; GENES, NEUROFIBROMATOSIS 1; GENOTYPE; HAMARTOMA; HUMANS; IRIS; IRIS NEOPLASMS; MALE; MIDDLE AGED; NEOPLASMS, RADIATION-INDUCED; NEUROFIBROMATOSIS 1; POLYMORPHISM, SINGLE NUCLEOTIDE; QUESTIONNAIRES; SKIN NEOPLASMS; SUNLIGHT; TUMOR BURDEN; ULTRAVIOLET RAYS; YOUNG ADULT;

EID: 78649424275     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-3650     Document Type: Article

References (44)

1. Wallace MR, Marchuk DA, Andersen LB, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science. 1990;249:181-186.
2. Xu GF, O'Connell P, Viskochil D, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell. 1990;62:599-608.
3. Szudek J, Joe H, Friedman JM. Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1). Genet Epidemiol. 2002;23: 150-164.
4. Easton DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet. 1993;53:305-313.
5. Upadhyaya M, Huson SM, Davies M, et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c. 2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet. 2007;80:140-151.
6. Tonsgard JH, Yelavarthi KK, Cushner S, Short MP, Lindgren V. Do NF1 gene deletions result in a characteristic phenotype? Am J Med Genet. 1997;73:80-86.
7. National Institutes of Health Consensus Development Conference. Consensus development conference statement: neurofibromatosis. Arch Neurol. 1988;45:575-578.
8. Lubs ML, Bauer MS, Formas ME, Djokic B. Lisch nodules in neurofibromatosis type 1. N Engl J Med. 1991;324:1264-1266.
9. Lal G, Leavitt JA, Lindor NM, Mahr MA. Unilateral Lisch nodules in the absence of other features of neurofibromatosis 1. Am J Ophthalmol. 2003;135:567-568.
10. Otsuka F, Kawashima T, Imakado S, Usuki Y, Hon-Mura S. Lisch nodules and skin manifestation in neurofibromatosis type 1. Arch Dermatol. 2001;137:232-233.
11. Zehavi C, Romano A, Goodman RM. Iris (Lisch) nodules in neurofibromatosis. Clin Genet. 1986;29:51-55.
12. Nichols JC, Amato JE, Chung SM. Characteristics of Lisch nodules in patients with neurofibromatosis type 1. J Pediatr Ophthalmol Strabismus. 2003;40:293-296.
13. Huson S, Jones D, Beck L. Ophthalmic manifestations of neurofibromatosis. Br J Ophthalmol. 1987;71:235-238.
14. Lewis RA, Riccardi VM. Von Recklinghausen neurofibromatosis: incidence of iris hamartomata. Ophthalmology. 1981;88:348-354.
15. Ragge NK. Clinical and genetic patterns of neurofibromatosis 1 and 2. Br J Ophthalmol. 1993;77:662-672.
16. Ragge NK, Falk RE, Cohen WE, Murphree AL. Images of Lisch nodules across the spectrum. Eye. 1993;7:95-101.
17. Perry HD, Font RL. Iris nodules in von Recklinghausen's Neurofibromatosis: electron microscopic confirmation of their melanocytic origin. Arch Ophthalmol. 1982;100:1635-1640.
18. Williamson TH, Garner A, Moore AT. Structure of Lisch nodules in neurofibromatosis type 1. Ophthalmic Paediatr Genet. 1991;12: 11-17.
19. Richetta A, Giustini S, Recupero SM, et al. Lisch nodules of the iris in neurofibromatosis type 1. J Eur Acad Dermatol Venereol. 2004; 18:342-344.
20. Nichols JC, Amato JE, Chung SM. Lisch nodule asymmetry in a patient with neurofibromatosis type 1. J Pediatr Ophthalmol Strabismus. 2003;40:243-244.
21. Wood TD, Egan RA. Inferior predilection of Lisch nodules with ptosis. Neurology. 2005;64:1370.
22. Liu DT, Chan AY, Cho PC. Inferior predilection of Lisch nodules with ptosis (letter). Neurology. 2006;66:615; author reply 615.
23. Smith BT, Belani S, Ho AC. Ultraviolet and near-blue light effects on the eye. Int Ophthalmol Clin. 2005;45:107-115.
24. Fleming DP, Walsh JE, Moore LA, Bergmanson JP, McMahon D. A novel sensor array for field based ocular ultraviolet radiation measurements. Radiat Prot Dosimetry. 2006;118:265-274.
25. Sliney DH. UV radiation ocular exposure dosimetry. J Photochem Photobiol B. 1995;31:69-77.
26. Tomany SC, Klein R, Klein BE. The relationship between iris color, hair color, and skin sun sensitivity and the 10-year incidence of age-related maculopathy: the Beaver Dam Eye Study. Ophthalmology. 2003;110:1526-1533.
27. McCarty CA, Lee SE, Livingston PM, Bissinella M, Taylor HR. Ocular exposure to UV-B in sunlight: the Melbourne visual impairment project model. Bull World Health Organ. 1996;74:353-360.
28. Pane AR, Hirst LW. Ultraviolet light exposure as a risk factor for ocular melanoma in Queensland, Australia. Ophthalmic Epidemiol. 2000;7:159-167.
29. Sliney DH. Eye protective techniques for bright light. Ophthalmology. 1983;90:937-944.
30. Sliney DH. How light reaches the eye and its components. Int J Toxicol. 2002;21:501-509.
31. Johnson FS, Mo T, Green AE. Average latitudinal variation in ultraviolet radiation at the earth's surface. Photochem Photobiol. 1976;23:179-188.
32. Godar DE. UV doses worldwide. Photochem Photobiol. 2005;81: 736-749.
33. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin: rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet. 2002;30:97-101.
34. Hu DN. Photobiology of ocular melanocytes and melanoma. Photochem Photobiol. 2005;81:506-509.
35. Hu DN, Simon JD, Sarna T. Role of ocular melanin in ophthalmic physiology and pathology. Photochem Photobiol. 2008;84:639-644.
36. Kadekaro AL, Kavanagh RJ, Wakamatsu K, Ito S, Pipitone MA, Abdel-Malek ZA. Cutaneous photobiology: the melanocyte vs. the sun-who will win the final round? Pigment Cell Res. 2003;16: 434-447.
37. Singh AD, Rennie IG, Seregard S, Giblin M, McKenzie J. Sunlight exposure and pathogenesis of uveal melanoma. Surv Ophthalmol. 2004;49:419-428.
38. Tadokoro T, Kobayashi N, Zmudzka BZ, et al. UV-induced DNA damage and melanin content in human skin differing in racial/ ethnic origin. FASEB J. 2003;17:1177-1179.
39. Serra E, Rosenbaum T, Nadal M, et al. Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. Nat Genet. 2001;28:294-296.
40. Stewart DR, Corless CL, Rubin BP, et al. Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1. J Med Genet. 2007;44:e61.
41. Shannon KM, O'Connell P, Martin GA, et al. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med. 1994; 330:597-601.
42. Maertens O, De Schepper S, Vandesompele J, et al. Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet. 2007;81:243-251.
43. Kumar V, Cotran RS, Robbins SL. Robbins Basic Pathology. 7th ed. Philadelphia: Saunders; 2003:xii,873.
44. Sturm RA, Frudakis TN. Eye colour: portals into pigmentation genes and ancestry. Trends Genet. 2004;20:327-332.