Abstract
The presence of melanocytic hamartomas on the iris, known eponymously as Lisch nodules, is highly characteristic of neurofibromatosis type 1 (NF1). Early recognition of NF1 is vital for optimal detection of associated tumours and for genetic counselling of family members. Although the iris nodules are probably not visible at birth, their prevalence in patients with NF1 gradually increases from birth to about 50% of 5-year-olds, 75% of 15-year-olds and 95-100% of adults over the age of 30. Iris hamartomas in NF1 are elevated, pale brown lesions that vary in appearance depending on the underlying colour of the iris. Colour illustrations are shown in this article, enabling the clinician readily to differentiate hamartomas from other iris lesions.
Similar content being viewed by others
Article PDF
References
Lisch K . Ueber Beteiligung der Augen, insbesondere das Vorkommen von Irisknötchen bei der Neurofibromatose (Recklinghausen). Z Augenheilkd 1937;93:137–43.
Lewis RA, Riccardi VM . von Recklinghausen neurofibromatosis. Incidence of iris hamartomata. Ophthalmology 1981;88:348–54.
Treacher Collins E . Case of a patient with congenital excess of pigment in the uveal tract and pigmentation of the sclerotic in one eye, which late in life became the seat of a melan-otic sarcoma. Trans Ophthalmol Soc UK 1894;14:197–9.
Coats G . Unilateral diffuse melanosis of the uvea, with small elevations on the surface of the iris. Trans Ophthalmol Soc UK 1912;32:164–71.
Fleischer B . Zwei Fälle von einseitiger Melanosis der Skiera, der Iris und des Augenhintergrundes mit warzenför-migen, kleinen Erhebungen an der Iris vorderfläche. Klin Monatsbl Augenheilkd 1913;51:170–4.
Friedenwald H, Friedenwald JS . Melanosis of the lids, conjunctiva and sciera, with wartlike growths on the iris. Arch Ophthalmol 1925;54:51–4.
Snell S, Treacher Collins E . Plexiform neuroma (elephantiasis neuromatosis) of temporal region, orbit, eyelid and eyeball. Notes of three cases. Trans Ophthalmol Soc UK 1903;23:157–77.
Fuchs E . Naevus pigmentosus und Naevus vasculosus der Iris. Graefes Arch Clin Exp Ophthalmol 1913;86:155–169.
Waardenburg PJ . Heterochromie en melanosis. Ned Tijdschr Geneeskd 1918;62:1453–5.
Goldstein I, Wexler D . Melanosis uveae and melanoma of the iris in neurofibromatosis (Recklinghausen). Arch Ophthalmol 1930;3:288–96.
Gabriélidès C . Fibroneurome orbito-temporo-palpébral (Maladie de Recklinghausen). Ann Ocul 1931;168:187–206.
Kurz J . Tumorbefund in der Iris bei Neurofibromatose. Ofthalm. Sborn 1932;7:294-5. (Abstract in Z Gesamte Ophthalmol 1933;28:566.)
Van der Hoeve J . The Doyne Memorial Lecture. Eye symptoms in phakomatoses. Trans Ophthalmol Soc UK 1932;52:380–401.
Sakurai T . Multiple neurofibroma patient showing multiple flecks on the anterior surface of the iris. Acta Soc Ophthalmol Jpn 1935;39:87–93.
Perry HD, Font RL . Iris nodules in von Recklinghausen's neurofibromatosis. Electron microscopic confirmation of their melanocytic origin. Arch Ophthalmol 1982;100:1635–40.
Williamson TH, Garner A, Moore AT . Structure of Lisch nodules in neurofibromatosis type 1. Ophthalmic Paediatr Genet 1991;12:11–17.
Boltshauser E, Flüeler U, Kilchhofer A . Iris hamartomas as diagnostic criterion in neurofibromatosis. Ann Neurol 1985;18:415–16.
Flüeler U, Boltshauser E, Kilchhofer A . Iris hamartomata as diagnostic criterion in neurofibromatosis. Neuropediatrics 1986;17:183–5.
Huson S, Harper P, Compston D . Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 1988;111:1355–81.
Lubs M-LE, Bauer MS, Formas ME, Djokic B . Lisch nodules in neurofibromatosis type 1. N Engl J Med 1991;324:1264–6.
Obringer AC, Meadows AT, Zackai EH . The diagnosis of neurofibromatosis-1 in the child under the age of 6 years. Am J Dis Child 1989;143:717–9.
Zehavi C, Romano A, Goodman RM . Iris (Lisch) nodules in neurofibromatosis. Clin Genet 1986;29:51–5.
Markowitz JA, Hawkins BS, Diener-West M, Schachat AP . A review of mortality from choroidal melanoma. I. Quality of published reports, 1966-88. Arch Ophthalmol 1992;110:239–44.
Diener-West M, Hawkins BS, Markowitz JA, Schachat AP . A review of mortality from choroidal melanoma. II A meta-analysis of 5-year mortality rates following enucleation, 1966 through 1988. Arch Ophthalmol 1992;110:245–50.
Toonstra J, Dandrieu MR, Ippel PF, Delleman JW, Rupert Jr PHJM, Huitema HB . Are Lisch nodules an ocular marker of the neurofibromatosis gene in otherwise unaffected family members? Dermatologica 1987;174:232–5.
Ponder B . Neurofibromatosis gene cloned. Nature 1990;346:703–4.
Riccardi VM, Lewis RA . Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants. Am J Hum Genet 1988;42:284–9.
Allanson J, Upadhyaya M, Watson G, Partington M, Mackenzie A, Lahey D, et al. Watson syndrome—is it a subtype of type-1 neurofibromatosis? J Med Genet 1991;28:752–6.
Weleber RG, Zonana J . Iris hamartomas (Lisch nodules) in a case of segmental neurofibromatosis. Am J Ophthalmol 1983;96:740–3.
Charles SJ, Moore AT, Yates JRW, Ferguson-Smith MA . Lisch nodules in neurofibromatosis type 2. Arch Ophthalmol 1989;107:1571–2.
Garretto NS, Ameriso S, Molina HA, Arberas C, Salvat J, Monteverde D, Sica REP . Type 2 neurofibromatosis with Lisch nodules. Neurofibromatosis 1989;2:315–21.
Parry DM, Sherman JL, Pilus A, Kaiser-Kupfer MI, Eldridge R . In: Mulvihill JJ (moderator). Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): an update. Ann Intern Med 1990;113:39–52.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Ragge, N., Falk, R., Cohen, W. et al. Images of Lisch nodules across the spectrum. Eye 7, 95–101 (1993). https://doi.org/10.1038/eye.1993.20
Issue Date:
DOI: https://doi.org/10.1038/eye.1993.20
Keywords
This article is cited by
-
Ocular Manifestations of Pediatric Systemic Diseases
The Indian Journal of Pediatrics (2018)