IRIS LOCALIZATION OF NEUROFIBROMATOSIS TYPE 1: ABOUT 3 CASES.

Published 2023 - 27th ESCRS Winter Meeting

Reference: P008 | Type: Presented Poster & Poster Submission | DOI: 10.82333/6kjk-1888

Authors: Mohcine El Mhadi* ¹ , Aziz El ouafi ¹ , Adil Bouzidi ¹ , Ahmed Alami ¹ , Said Iferkhass ¹

¹Ophthalmology department,Military hospital Moulay Ismail of Meknes,Meknes,Morocco

Purpose

Von Recklinghausen's disease or neurofibromatosistype I (NF1) is the most common phacomatosis. It is a relatively common genetic disease. The ophthalmological manifestations of type I neurofibromatosis are many and varied.

The purpose of our presentation is to remind the clinician of the appearance of Lisch nodules through

an iconographic presentation and their stillcurrent role in the identification of neurofibromatosis.

Setting

We report three observations of patients with type I neurofibromatosis in whom Lisch nodules were the only ocular manifestation of the disease.

Methods

These are 3 patients aged:

36 / 45 37, referred for ophthalmological examinationin search of signs in favor of neurofibromatosis. the ophthalmologicalexamination 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

One of the rarest genetic disorders, neurofibromatosis type 1 (nf1), also known as von recklinghausen's disease, involves the development of multiple benignneurofibromas and areas of abnormal hypo or hyperpigmentation in the skin. It affects 3 out of 10,000 newborn babies worldwide.

Lisch nodules represent the most frequent ocularmanifestation of type I neurofibromatosis, of which itconstitutes a pathognomonic sign. Under the bio-microscope Lisch's nodules are bilateral, they look likesmall gelatinous masses, in relief compared to the surface of the iris. Their color varies from unpigmentedto highly pigmented depending on the color of the iris. In optical microscopy, the Lisch nodules are intrastromal with poorly defined limits. They are made up of spindle-shaped cells that are generally larger thannormal iris melanocytes. The cytoplasm of some of these cells contains melanin. Electron microscopyconfirms that the iris nodules are composed of melanocytes. These are melanocytic hamartomas.

Conclusion

Lisch nodules are pathognomonic for Von Recklinghausen disease. Their presence is an important argument to support the diagnosis of the disease which, at present, is still based on a range of clinical arguments. They are easily detectable by bio-microscope examination. The difficulty for the practitioner is to know how to distinguish them from other types of iris nodules.