Multiple, Unilateral Lisch Nodules in the Absence of Other Manifestations of Neurofibromatosis Type 1

Adams, Erin G.; Stewart, Kristen M. A.; Borges, O. A.; Darling, Thomas N.

doi:10.1155/2011/854784

Cited by 9 publications

(11 citation statements)

References 6 publications

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“…They are typically seen under slit-lamp examination; are described as round elevated nodules within the iris, measuring around 2-3 mm in size; and are brown to yellow in color (Figure 1). Lisch nodules are typically bilateral; however, unilateral nodules have been reported previously in some types of NF [4].…”

Section: Intraocular Manifestations 31 Irismentioning

confidence: 88%

Ocular Findings in Neurofibromatosis

Alkatan¹,

Bakry²,

Alabduljabbar³

2020

Neurofibromatosis - Current Trends and Future Directions

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Neurofibromatosis (NF) is an inherited disease affecting multiple systems in the body. The eye is frequently affected in neurofibromatosis, and therefore ocular manifestations play a major role in the diagnosis of NF. This chapter aims to explore the spectrum of ocular manifestations found in neurofibromatosis highlighting the importance of ophthalmic exam in these patients. It will describe various intraocular manifestations involving the iris, lens, and retina. It will be focusing on glaucoma and the pathogenesis behind it in this group of patients. Moreover, periorbital and orbital involvement such as skin neurofibromas and optic nerve gliomas will be discussed along with some of their histopathological findings.

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Section: Intraocular Manifestations 31 Irismentioning

confidence: 88%

Ocular Findings in Neurofibromatosis

Alkatan¹,

Bakry²,

Alabduljabbar³

2020

Neurofibromatosis - Current Trends and Future Directions

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“…7 Multiple Lisch nodules are pathognomonic of NF1, as it is rare for Lisch nodules to occur in the absence of other features of NF1 8 ; however, several cases have been reported in the literature. 9,10 Lisch nodules must be carefully distinguished from other iritic findings, including iris mammillations, multiple iris nevi, iritic cysts, Brushfield spots, and malignancies. 8,11 Principally, the alternative diagnoses of iris mammillations and multiple iris nevi were considered in our cases.…”

Section: Discussionmentioning

confidence: 99%

“…They can be clear to yellow or brown in color. 7,9,11 Multiple experienced pediatric ophthalmologists were consulted and agreed that the lesions in cases 1 and 2 appear most consistent with a combination of iris mammillations and Lisch nodules. As Legius syndrome was first described little over a decade ago, and our body of knowledge continues to expand, these cases may demonstrate that the full phenotypic spectrum of Legius syndrome has not yet been defined.…”

Section: Discussionmentioning

confidence: 99%

Lisch nodules and iris mammillations in two siblings with familial legius syndrome

Bixel

Cano

Johnson

et al. 2020

Clinical Case Reports

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Legius syndrome is a recently described genetic syndrome that is characterized by multiple café-au-lait macules (CALMs) and can also include intertriginous freckling, lipomas, macrocephaly, and neurobehavioral disorders. Legius syndrome is caused by a mutation in the SPRED1 gene on chromosome 15 and is inherited in an autosomal dominant fashion. It is a rare disorder; the overall prevalence is unknown at this time, and most medical knowledge is based off of roughly 200 individuals with a genetically confirmed diagnosis. 1,2 Legius syndrome is also known as neurofibromatosis type 1-like syndrome, as the initial clinical presentation of Legius syndrome can be clinically indistinguishable from neurofibromatosis type 1 (NF1). However, the lifetime clinical courses and prognoses for these diseases are very different. NF1 is characterized by development of multiple types of benign growths later in life, including neurofibromas and Lisch nodules; therefore, Legius syndrome is usually clinically differentiated from NF1 by the absence of these tumors. 1,2 We report on a familial case of three patients with molecularly confirmed Legius syndrome, in which two female

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“…Ragge et al suggested that iris mammillations have been confused with Lisch nodules associated with NF1 which was previously known as von Recklinghausen disease [ 1 , 2 ]. Lisch nodules, also known as iris hamartoma, are irregularly spaced, pigmented brown hamartomatous nodular aggregates of dendritic melanocytes [ 1 , 6 ]. They are accompanied by ocular hypertension or intraocular malignancy, and they are also associated with external ocular manifestations such as oculodermal melanosis [ 1 , 6 ].…”

Section: Discussionmentioning

confidence: 99%

“…Lisch nodules, also known as iris hamartoma, are irregularly spaced, pigmented brown hamartomatous nodular aggregates of dendritic melanocytes [ 1 , 6 ]. They are accompanied by ocular hypertension or intraocular malignancy, and they are also associated with external ocular manifestations such as oculodermal melanosis [ 1 , 6 ]. The iris nodules in our case were protruding nodules and had the same color as those seen in dark brown irides.…”

Section: Discussionmentioning

confidence: 99%

Bilateral Iris Mammillations in Amblyopic Eyes without Oculodermal Melanocytosis or Neurofibromatosis

Yamamoto

Mimura

Matsumoto

et al. 2018

Case Reports in Ophthalmological Medicine

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Purpose Iris mammillations are related to oculodermal melanosis and iris nevi. We report a rare case of bilateral simple iris mammillations without ocular melanosis or systemic neuronal disorders. Case Report A healthy 10-year-old Japanese girl was found incidentally to have bilateral iris mammillations while being treated for amblyopia. The best-corrected visual acuity was 20/40 in both eyes. Ocular examination showed evenly spaced, uniform-size, iris protrusions completely covering the iris surface bilaterally. There were no other ocular or neurological abnormalities. Conclusion To the best of our knowledge, this is the first report of bilateral iris mammillations in Japan. Our case emphasizes that iris mammillations can occur even without ocular melanocytosis or systemic diseases.

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Multiple, Unilateral Lisch Nodules in the Absence of Other Manifestations of Neurofibromatosis Type 1

Cited by 9 publications

References 6 publications

Ocular Findings in Neurofibromatosis

Ocular Findings in Neurofibromatosis

Lisch nodules and iris mammillations in two siblings with familial legius syndrome

Bilateral Iris Mammillations in Amblyopic Eyes without Oculodermal Melanocytosis or Neurofibromatosis

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