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TitreEpiretinal membrane ( ERM ) and congenital hamartoma of the retina and retinal pigment epithelium (CHRRPE) in very young children with and without NF2
ButNF2 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.
MéthodesWe 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.
RésultatsOCT of those hamartoma is pathognomonic.
ConclusionTherefore 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
NomROULEZ
InitialesF
InstitutDepartment of pediatric ophthalmology, HUDERF, ULB
VilleBrussels/Sierre
Auteur 2
NomPOSTOLACHE
InitialesL
InstitutDepartment of pediatric ophthalmology, HUDERF, ULB
VilleBrussels
Auteur 3
NomZIERIESEN
InitialesF
InstitutDepartment of radiology, HUDERF, ULB
VilleBrussels
Auteur 4
NomCLAES
InitialesK
InstitutDepartment of genetics, UZ Ghent
VilleGhent
Auteur 5
NomMEIRE
InitialesF
InstitutDepartment of pediatric ophthalmology, HUDERF, ULB
VilleBrussels
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