Posters

Congenital heterochromia iridis

Poster Details

First Author: M.Mozo Cuadrado SPAIN

Co Author(s): L. Tabuenca Del Barrio                    

Abstract Details

Purpose:

To report a case of congenital heterochromia iridis due to iris mammillations

Setting:

Complejo Hospitalario de Navarra, Tertiary hospital, Spain

Methods:

Case report, colour images and OCT scans

Results:

A 20 year-old female treated in childhood due to an anisometropic amblyopia in her right eye presented  in a successive consultation with iris heterochromia. The patient underwent several studies due to the mistaken suspect of Lisch nodules but they were negative so the diagnosis of Neurofibromatosis Type 1 (NF1) was rejected. Slit-lamp examination revealed multiple small pigmented bumps in the left iris which was the darkest one and a scleral melanosis. Cutaneous hyperpigmentation of the periocular left skin was also identified. Fundoscospy and Intraocular Pressure were normal.

Conclusions:

Iris mammillations (IM) is a rare condition which consists of several pigmented protuberances regularly distributed on the iridian surface. It is usually mistaken for Lisch nodules from NF1 which are melanocytic hamartomas that look clear from yellow to brown and are normally bigger and less numerous than IM. IM tend to be unilateral and sporadic and may be associated with regional melanosis which increases the risk of uveal melanoma. Other associations described are the development of glaucoma and phakomatosis pigmentovascularis type IIb. Patients affected by IM should undergo consecutive examinations in order to detect associated diseases.

Financial Disclosure:

None