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TitelEpiretinal membrane ( ERM ) and congenital hamartoma of the retina and retinal pigment epithelium (CHRRPE) in very young children with and without NF2
DoelNF2 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.
MethodesWe 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.
ResultatenOCT of those hamartoma is pathognomonic.
ConclusieTherefore 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.
Auteur 1
NaamROULEZ
InitialenF
InstituutDepartment of pediatric ophthalmology, HUDERF, ULB
StadBrussels/Sierre
Auteur 2
NaamPOSTOLACHE
InitialenL
InstituutDepartment of pediatric ophthalmology, HUDERF, ULB
StadBrussels
Auteur 3
NaamZIERIESEN
InitialenF
InstituutDepartment of radiology, HUDERF, ULB
StadBrussels
Auteur 4
NaamCLAES
InitialenK
InstituutDepartment of genetics, UZ Ghent
StadGhent
Auteur 5
NaamMEIRE
InitialenF
InstituutDepartment of pediatric ophthalmology, HUDERF, ULB
StadBrussels
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