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Originally published In Press as doi:10.1167/iovs.09-3650 on June 10, 2009
 (Investigative Ophthalmology and Visual Science. 2009;50:5035-5043.)
© 2009 by The Association for Research in Vision and Ophthalmology, Inc.
doi:10.1167/iovs.09-3650
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A Quantitative Assessment of the Burden and Distribution of Lisch Nodules in Adults with Neurofibromatosis Type 1

Sean Boley,1 Jennifer L. Sloan,2 Alexander Pemov,2 and Douglas R. Stewart2

From the 1Penn State University College of Medicine, Hershey, Pennsylvania; and the 2National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Corresponding author: Douglas R. Stewart, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49, Room 4A62, Bethesda, MD 20892; drstewart{at}mail.nih.gov.

Purpose. The presence of two or more Lisch nodules (melanocytic hamartomas of the iris) is one of seven diagnostic criteria for neurofibromatosis type 1 (NF1), a common monogenic disorder of dysregulated neurocutaneous growth. The hypothesis that Lisch nodules arise secondary to exposure to ultraviolet (UV) radiation from sunlight was investigated.

Methods. Lisch nodule burden was mapped and quantified in the irides of 77 adults with NF1. Lifetime sunlight (UV radiation) exposure was inventoried, NF1 neurocutaneous severity determined, and two NF1 mutations predictive of severity selectively genotyped.

Results. There was high interindividual variability in Lisch nodule burden. Lisch nodules were primarily located in the inferior hemifield (half) of the iris, regardless of its color (P = 3.0 x 10–20). Light irides harbored significantly more Lisch nodules than dark irides (P = 4.8 x 10–5). There was no statistically significant correlation of Lisch nodule burden to lifetime sunlight exposure "dose" or NF1 neurocutaneous severity.

Conclusions. The difference in Lisch nodule burden between the superior and inferior iris hemifields is most likely due to the sunlight-shielding effects on the superior half by periocular structures. The difference in Lisch nodule burden between light and dark irides is probably due to the photoprotective effects of pigmentation. The genes underlying the control of iris color may thus be viewed as modifiers of severity of Lisch nodule burden in NF1. Given the role of UV radiation and, presumably, DNA damage in Lisch nodule pathogenesis, "benign tumor of the iris," not "hamartoma," may be a better descriptor.






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