Lisch nodule: Difference between revisions
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*The prognosis is excellent for eyes that contain iris Lisch nodules, unless associated with other ocular lesions including optic nerve gliomas and epiretinal membranes. | *The prognosis is excellent for eyes that contain iris Lisch nodules, unless associated with other ocular lesions including optic nerve gliomas and epiretinal membranes. | ||
*NF1 and NF2 vary based on location of chromosome mutation, tumor type and location, non-tumor manifestations and management techniques; however, clinical presentations of both subtypes may overlap, making diagnosis difficult <ref name="Lisch">{{cite web |url=https://www.reviewofoptometry.com/article/ocular-signs-of-neurofibromatosis |title=Ocular Signs of Neurofibromatosis |format= |work= |accessdate=}}</ref> | |||
*Both NF1 and NF2 are acquired through an inherited autosomal dominant transmission or sporadic mutation, with presentation of NF1 more common than NF2. | |||
*Therefore, members of the same family with NF may have different disease presentations from each other, as they do not always carry the same gene mutations. | |||
*Lisch nodules rarely cause ocular complications and patients are typically asymptomatic | |||
*NF patients may also present with plexiform neurofibroma, retinal tumors and optic nerve pathway gliomas as optical lesions | |||
==Diagnosis== | ==Diagnosis== | ||
Revision as of 18:07, 24 June 2019
For patient information, click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Swathi Venkatesan, M.B.B.S.[2]
Synonyms and keywords: Sakurai-lisch nodule
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Lisch nodule from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3] Swathi Venkatesan, M.B.B.S.[4]
- The prognosis is excellent for eyes that contain iris Lisch nodules, unless associated with other ocular lesions including optic nerve gliomas and epiretinal membranes.
- NF1 and NF2 vary based on location of chromosome mutation, tumor type and location, non-tumor manifestations and management techniques; however, clinical presentations of both subtypes may overlap, making diagnosis difficult [1]
- Both NF1 and NF2 are acquired through an inherited autosomal dominant transmission or sporadic mutation, with presentation of NF1 more common than NF2.
- Therefore, members of the same family with NF may have different disease presentations from each other, as they do not always carry the same gene mutations.
- Lisch nodules rarely cause ocular complications and patients are typically asymptomatic
- NF patients may also present with plexiform neurofibroma, retinal tumors and optic nerve pathway gliomas as optical lesions
Diagnosis
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [5] Swathi Venkatesan, M.B.B.S.[6]
History & Symptoms
Diagnostic Criteria for neurofibromatosis 1[2]
(NIH consensus development conference 1988)
- 6 or more café au lait macules (>0.5 cm in children or >1.5 cm in adults)
- 2 or more cutaneous/subcutaneous neurofibromas or one plexiform neurofibroma
- Axillary or groin freckling
- Optic pathway glioma
- 2 or more Lisch nodules (iris hamartomas seen on slit lamp examination)
- Bony dysplasia (sphenoid wing dysplasia, bowing of long bone ± pseudarthrosis)
- First degree relative with NF1
The diagnosis is based on clinical assessment and two or more of the features are required.
Physical Examination
Laboratory Findings
Other Imaging Findings | Other Diagnostic Studies
Treatment
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [7] Swathi Venkatesan, M.B.B.S.[8]
- There is no treatment for the underlying disease nor any necessity to treat these small benign lesions which do not interfere with visual function, but lifelong monitoring is necessary because of the widespread manifestations and serious threat of complications such as visual impairment, renal hypertension and ischemia of major organs. [3]
Case Studies
- ↑ "Ocular Signs of Neurofibromatosis".
- ↑ Ferner, R. E; Huson, S. M; Thomas, N.; Moss, C.; Willshaw, H.; Evans, D G.; Upadhyaya, M.; Towers, R.; Gleeson, M.; Steiger, C.; Kirby, A. (2006). "Guidelines for the diagnosis and management of individuals with neurofibromatosis 1". Journal of Medical Genetics. 44 (2): 81–88. doi:10.1136/jmg.2006.045906. ISSN 1468-6244.
- ↑ Adams, E. G.; Stewart, K. M. A.; Borges, O. A.; Darling, T. (2011). "Multiple, Unilateral Lisch Nodules in the Absence of Other Manifestations of Neurofibromatosis Type 1". Case Reports in Ophthalmological Medicine. 2011: 1–2. doi:10.1155/2011/854784. ISSN 2090-6722.