THE BELGIAN OPHTHALMIC ASSOCIATIONS
View abstract
This abstract is assigned to session AOB Free papers
| Title | Epiretinal membrane ( ERM ) and congenital hamartoma of the retina and retinal pigment epithelium (CHRRPE) in very young children with and without NF2 |
| Purpose | NF2 is a tumor suppressor gene that encode for Merlin. Manifestations are explained by the loss of function of Merlin through NF2 mutation and allelic loss of heterozygosity. Absence of Merlin provides dysplastic Müller cells that proliferate as an epiretinal membrane through breaks in internal limiting membrane (ILM) of the retina. |
| Methods | We report 2 unrelated very young children with ERM and CHRRPE as first manifestation of NF2. The children carry respectively a non sense mutation and a non reported deletion in NF2 gene. In a third child, with unilateral CHRRPE NF2 was excluded. |
| Results | OCT of those hamartoma is pathognomonic. |
| Conclusion | Therefore the recognition by paediatric ophthalmologist of those hamartoma as a hallmark of NF2 leads to an appropriate multidisciplinary follow up. Prognosis of NF2 is adversely affected by early age at onset. |
Authors 1
| Last name | ROULEZ |
| Initials | F |
| Department | Department of pediatric ophthalmology, HUDERF, ULB |
| City | Brussels/Sierre |
Authors 2
| Last name | POSTOLACHE |
| Initials | L |
| Department | Department of pediatric ophthalmology, HUDERF, ULB |
| City | Brussels |
Authors 3
| Last name | ZIERIESEN |
| Initials | F |
| Department | Department of radiology, HUDERF, ULB |
| City | Brussels |
Authors 4
| Last name | CLAES |
| Initials | K |
| Department | Department of genetics, UZ Ghent |
| City | Ghent |
Authors 5
| Last name | MEIRE |
| Initials | F |
| Department | Department of pediatric ophthalmology, HUDERF, ULB |
| City | Brussels |