NEUROFIBROMATOSIS TYPE 1 : CASE REPORT ABOUT CUTANEOUS AND IRIS NODULES
Published 2025 - 29th ESCRS Winter Meeting
Reference: PO078 | Type: Presented Poster & Poster | DOI: 10.82333/1et2-bm10
Authors: Salma Hamidi* 1 , Soukayna Ouadghiri 1 , YOUNES LAARIF 1 , NARJISS TAOURI 1 , ABDELLAH AMAZOUZI 1 , Lalla Ouafae Cherkaoui 1
1Ophtalmology A,Specialty Hospital of Rabat,RABAT,Morocco
Purpose
Von Recklinghausen's disease, or neurofibromatosis type I (NF1), is the most prevalent phacomatosis and a relatively common genetic disorder. Type I neurofibromatosis presents a wide range of ophthalmological manifestations.
This presentation aims to remind clinicians of the appearance of Lisch nodules through visual documentation and their ongoing importance in identifying neurofibromatosis.
Setting
We report a patient with type I neurofibromatosis in whom Lisch nodules was the only ocular manifestation of the disease and the confirmation.
Methods
The patient was aged 37 years old, referred for ophthalmological examinationin search of signs in favor of neurofibromatosis. the ophthalmological examination found a visual acuity of 10/10 p2 in both eyes, the slit lamp examination revealed bilateral lisch nodules. the fundus was unremarkable. Furthermore, skin examination revealed several (coffee with milk) spots with multiple neurofibromas.
Results
Neurofibromatosis type 1 (NF1), also known as Von Recklinghausen's disease, is one of the rarest genetic disorders, characterized by the development of multiple benign neurofibromas and areas of abnormal hypo- or hyperpigmentation on the skin. It affects approximately 3 in 10,000 newborns worldwide.
Lisch nodules are the most common ocular manifestation of NF1 and are considered a pathognomonic sign. Under a biomicroscope, Lisch nodules appear bilaterally as small, gelatinous masses raised above the iris surface. Their color ranges from unpigmented to highly pigmented, depending on iris color. In optical microscopy, these nodules are located within the iris stroma, with poorly defined borders, and are composed of spindle-shaped cells that are generally larger than normal iris melanocytes. Some of these cells contain melanin in their cytoplasm. Electron microscopy confirms that the iris nodules are made up of melanocytes, identifying them as melanocytic hamartomas.
Conclusion
Lisch nodules are pathognomonic for Von Recklinghausen's disease, providing a key diagnostic indicator for the condition, which currently relies on a set of clinical criteria. They are easily identifiable through biomicroscopic examination, although the challenge for practitioners lies in distinguishing them from other types of iris nodules.