Posters

Lisch's nodules as the first sign of diagnosis of Neurofibromatosis type 1

Poster Details

First Author: I.Eddarraz MOROCCO

Co Author(s): K. Belkhadir   M. Sefrioui   N. Taouri   S. Tachfouti   O. Cherkaoui        

Abstract Details

Purpose:

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease is a family phakomatosis, with an autosomal dominant genetic disorder most frequently. Ocular manifestations in NF1 are various and can cause serious complications. Those manifestations are one of the most important diagnostic criteria of NF1. We report the caseof a 20-year old women with no medical history, who was referred by her dermatologist for an ophtalmic exam  because he noticed some "cafe au lait" cutaneous lesions.

Setting:

Ophthalmology Unit A, Hopital des Specialites, Mohammed V University in Rabat, Morocco

Methods:

The clinical examination found a visual acuity at 12/10, normal  IOP. The exam of iris found a lot of brown, pigmented and gelatinous noduls of Lisch with clear limits. Those lesions were slightly surelevated, and little more pigmented than the rest of the iris stroma. This aspect was compatible with Lisch's nodules. Fundus examination found no associated retinal or choroidal lesions. Therefore, the diagnosis of NF1 was made, and the reseach of other lesions, in particular cerebral ones, was performed.

Results:

Lisch nodules are melanocytic hamartomas. They are the most frequent ocular manifestations of this phakomatosis. They are most often bilateral , and their presence is pathognomonic of Von Recklinghausen disease, especially when they are associated with typical skin lesions. Other ocular lesions can be found, including choroidal or more rarely retinal hamartomas.

Conclusions:

Lisch nodules are one of the most important diagnostic criteria of NF1. The interest of their screening in this asymptomatic patients, or patients with very few symptoms is relevant ton confirm the diagnosis of the disease, and to look for others lesions especially neurological, and choroidal ones.

Financial Disclosure:

None